Difference between revisions of "Fabry:Sequence-based mutation analysis"
Rackersederj (talk | contribs) m (→Substitution matrices: sortable) |
Rackersederj (talk | contribs) (→Results and Conclusion) |
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The following analyses were performed on the basis of the [[Fabry:Alpha-galactosidase|α-Galactosidase A]] [[Fabry:Alpha-galactosidase_sequence| sequence]]. Please consult the [[Fabry:Sequence-based_mutation_analysis/Journal|journal]] for the commands used to generate the results. |
The following analyses were performed on the basis of the [[Fabry:Alpha-galactosidase|α-Galactosidase A]] [[Fabry:Alpha-galactosidase_sequence| sequence]]. Please consult the [[Fabry:Sequence-based_mutation_analysis/Journal|journal]] for the commands used to generate the results. |
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− | == Dataset |
+ | == Dataset == |
Q279E |
Q279E |
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N215S |
N215S |
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Line 16: | Line 16: | ||
R118H |
R118H |
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A143T |
A143T |
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+ | |||
+ | <!-- |
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+ | <div style="float:left; border:thin solid lightgrey; margin: 0px 0px 0px 0px;"> |
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+ | <figtable id="tab:Info"> |
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+ | <caption>Information on chosen SNPs</caption> |
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+ | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
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+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
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+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| disease/non-disease |
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+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Evidence |
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+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Perc_wt |
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+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 2px 0;"| Perc_mt |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Q279E |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 16 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 59 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| N215S |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 9 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 3 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| I289V |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1000Genome |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 34 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 9 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| S65T |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 19 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 18 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R356W |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 20 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 7 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| V316I |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by freq |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 30 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 16 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P323T |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 24 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 7 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| P40S |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 92 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 1 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| R118H |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| Not validated |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 11 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 2 |
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+ | |- |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| A143T |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 1 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| by cluster,freq |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 19 |
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+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0;"| 4 |
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+ | |- |
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+ | |} |
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+ | </figtable> |
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+ | </div> |
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+ | |||
+ | --> |
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+ | <br style="clear:both"> |
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== Amino acid properties == |
== Amino acid properties == |
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<div style="float:left; border:thin solid lightgrey; margin: 0px 0px 0px 0px;"> |
<div style="float:left; border:thin solid lightgrey; margin: 0px 0px 0px 0px;"> |
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<figtable id="tab:aaProp"> |
<figtable id="tab:aaProp"> |
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− | <caption>Physicochemical properties of the chosen SNPs and changes of properties between wildtype (wt) and mutant (mt). |
+ | <caption>Physicochemical properties of the chosen SNPs and changes of properties between wildtype (wt) and mutant (mt).<br>Used abbreviation in this table:<br> AA: Amino Acid, Pol: Side-chain polarity, Charge: Side-chain charge at pH 7.4, HI: Hydropathy index, RM: Residue Mass, iP: isoelectric point</caption> |
− | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
+ | {| class="wikitable sortable" style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
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! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| wt<br>AA |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| wt<br>AA |
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Line 34: | Line 112: | ||
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| mt<br>HI |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| mt<br>HI |
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! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| mt<br>RM |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| mt<br>RM |
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− | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 2px 0;"| mt<br>iP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in Pol |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in Pol |
||
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in Charge |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in Charge |
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Line 45: | Line 123: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
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− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -3.5 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 128.131 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 128.131 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 5.65 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 5.65 |
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Line 51: | Line 129: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
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| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| negative |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| negative |
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− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -3.5 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 129.116 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 129.116 |
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− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 3.15 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral to |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| neutral to<br>negative |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 0 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0. |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 0.99 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -2.5 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -2.5 |
|- |
|- |
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| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| N215S |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| N215S |
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Line 64: | Line 142: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
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− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -3.5 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 114.104 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 114.104 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 5.41 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 5.41 |
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Line 70: | Line 148: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.8 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 87.078 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 87.078 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 5.68 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 2.7 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -27.026 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| -27.026 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 0.27 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| 0.27 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| I289V |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| I289V |
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Line 91: | Line 169: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4.2 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4.2 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 99.133 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 99.133 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 6.00 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.3 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| -0.3 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -14.027 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| -14.027 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -0. |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -0.05 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| S65T |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| S65T |
||
Line 102: | Line 180: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.8 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 87.078 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 87.078 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 5.68 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 5.68 |
||
Line 108: | Line 186: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.7 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 101.105 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 101.105 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 5.60 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0.1 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 0.1 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 14.027 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 14.027 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -0.08 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -0.08 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R356W |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R356W |
||
Line 121: | Line 199: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| positive |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| positive |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -4.5 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 156.188 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 156.188 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 10.76 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 10.76 |
||
Line 127: | Line 205: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.9 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 186.213 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 186.213 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 5.89 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar to |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| polar to<br>nonpolar |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| positive to |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| positive to<br>neutral |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 3.6 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 3.6 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 30.025 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 30.025 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -4.87 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -4.87 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| V316I |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| V316I |
||
Line 148: | Line 226: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4.5 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4.5 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 113.160 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 113.160 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 6.05 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0.3 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 0.3 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 14.027 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 14.027 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 0.05 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| 0.05 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P323T |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P323T |
||
Line 159: | Line 237: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -1.6 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 97.117 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 97.117 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 6.30 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 6.30 |
||
Line 165: | Line 243: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.7 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 101.105 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 101.105 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 5.60 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar to |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| nonpolar to<br>polar |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0.9 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 0.9 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 3.988 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 3.988 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -0.7 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -0.7 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P40S |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P40S |
||
Line 178: | Line 256: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -1.6 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 97.117 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 97.117 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 6.30 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 6.30 |
||
Line 184: | Line 262: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.8 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 87.078 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 87.078 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 5.68 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar to |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| nonpolar to<br>polar |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0.8 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 0.8 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -10.039 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| -10.039 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -0.62 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -0.62 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R118H |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R118H |
||
Line 197: | Line 275: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| positive |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| positive |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -4.5 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 156.188 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 156.188 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 10.76 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 10.76 |
||
Line 203: | Line 281: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| pos(10%),<br>neutr(90%) |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| pos(10%),<br>neutr(90%) |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -3.2 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 137.142 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 137.142 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 7.60 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| positive |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| positive to pos(10%),<br>neutr(90%) |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 1 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 1.3 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -19.046 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| -19.046 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -3.16 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -3.16 |
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| A143T |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| A143T |
||
Line 222: | Line 300: | ||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| polar |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| neutral |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -0.7 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 101.105 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 101.105 |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 3px 1px 0; text-align:right"| 5.60 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| nonpolar to |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| nonpolar to<br>polar |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| none |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color: #F0F0F0"| none |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| -2.5 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 30.026 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right; background-color: #F0F0F0"| 30.026 |
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| -0.41 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right; background-color: #F0F0F0"| -0.41 |
|- |
|- |
||
|} |
|} |
||
</figtable> |
</figtable> |
||
</div> |
</div> |
||
+ | <br style="clear:both"> |
||
− | <!-- |
||
− | Hydropathy (hydrophobicity vs. hydrophilicity or lipophobicity vs. lipophilicity) is usually characterized by numbers (hydrophobic moments, HM) from -7.5 (Arg) to 3.1 (Ile) <ref>JC Biro ''Amino acid size, charge, hydropathy indices and matrices for protein structure analysis''. Theoretical Biology and Medical Modelling 2006, 3:15 [http://www.tbiomed.com/content/3/1/15 doi:10.1186/1742-4682-3-15]</ref> |
||
− | |||
− | we use the hydropathy compatibility index (HCI) and collect these indices (20 × 20) in the matrix. HCIs were calculated using the formula |
||
− | HCI = 20 - | [HM(A) - HM(B)] × 19/10.6] | |
||
− | |||
− | --> |
||
<br style="clear:both"> |
<br style="clear:both"> |
||
+ | The polarity of the side chain determines whether an amino acid is hydrophobic or not. |
||
+ | Hydrophobicity is a measure of how soluble an amino acid is in water. Hydrophobic amino acids are more likely to be found inside a protein, while hydrophilic amino acids rather are in contact with the aqueous environment. <ref>Hydrophobicity Index for Common Amino Acids [http://www.sigmaaldrich.com/life-science/metabolomics/learning-center/amino-acid-reference-chart.html#hydro http://www.sigmaaldrich.com/life-science/metabolomics/learning-center/amino-acid-reference-chart.html#hydro], June 16, 2012</ref> |
||
+ | Therefore, depending on the localisation of an amino acid, a change in the polarity due to a mutation can cause a major defect. This may be the case in the SNPs P40S, A143T, P323T and R356W.<br> |
||
+ | Furthermore the type of charge (positive or negative) is important for the structure of a protein, because it controls the binding of the amino acid to close-by residues. A modification again can break the coherence of the protein, which might happen when the mutations R118H, Q279E and R356W occur.<br> |
||
+ | The hydropathy index of an amino acid is a number representing the hydrophobic or hydrophilic properties of its sidechain.<ref>Kyte J, Doolittle RF (May 1982). ''A simple method for displaying the hydropathic character of a protein''. J. Mol. Biol. 157 (1): 105–32. [http://www.ncbi.nlm.nih.gov/pubmed/7108955?dopt=Abstract PMID 7108955]. </ref> |
||
+ | The larger the number is, the more hydrophobic the amino acid, thus the most hydrophobic amino acid is isoleucine (4.5) and the most hydrophilic one is arginine (-4.5). |
||
+ | Considering a hydropathy change greater than 1 (in both direction, positive and negative) as crucial, only one SNP highly increases the hydrophobicity (A143T) and 3 increase the hydrophilic character of the position (R118H, N215S and R356W)<br> |
||
+ | The average residue mass ranges from 57.052 (Glycine) to 186.213 (Tryptophan), thus we expect an alteration of the mass of greater than 10 as critical. This concerns all mutations expect for Q279E and P323T.<br> |
||
+ | The isoelectric point is the pH at which an amino acid carries no net charge. Below the pI it carries a net positive charge, above it a net negative charge. Since the pH in the human body is on average 6.7, only three amino acids are positively charged (Histidine, Lysine and Arginine). The pI ranges from 2.85 (Aspartic acid) to 10.76 (Arginine), therefore we considered a change of 0.8 as probably desease causing. This applies only for R118H, Q279E and R356W. |
||
== Simple structural analysis == |
== Simple structural analysis == |
||
− | * Now take into consideration where in the protein the mutation occurs and document: Create a picture with PyMOL showing the original and mutated residue in the protein. [http://www.pymolwiki.org/index.php/Mutagenesis Use PyMOL for this]. More thorough structural analyses will be introduced in the next task. |
||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
− | == Location == |
||
− | < |
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">P40S</p> |
+ | <div style="float: right;"> |
||
+ | <figure id="fig:P40S_rotation"> |
||
+ | [[File:Fabry P40S rotation.gif|150px|thumb|right|<caption>The SNP P40S. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:P40S_localization"> |
||
+ | [[File:Fabry P40S localization.png|150px|thumb|right|<caption>The position of the SNP P40S in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:P40S_transformation"> |
||
+ | [[File:Fabry P40S transformation.gif|150px|thumb|right|<caption>The SNP P40S. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">S65T</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:S65T_rotation"> |
||
+ | [[File:Fabry S65T rotation.gif|150px|thumb|right|<caption>The SNP S65T. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:S65T_localization"> |
||
+ | [[File:Fabry S65T localization.png|150px|thumb|right|<caption>The position of the SNP S65T in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:S65T_transformation"> |
||
+ | [[File:Fabry S65T transformation.gif|150px|thumb|right|<caption>The SNP S65T. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">R118H</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:R118H_rotation"> |
||
+ | [[File:Fabry R118H rotation.gif|150px|thumb|right|<caption>The SNP R118H. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:R118H_localization"> |
||
+ | [[File:Fabry R118H localization.png|150px|thumb|right|<caption>The position of the SNP R118H in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:R118H_transformation"> |
||
+ | [[File:Fabry R118H transformation.gif|150px|thumb|right|<caption>The SNP R118H. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">A143T</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:A143T_rotation"> |
||
+ | [[File:Fabry A143T rotation.gif|150px|thumb|right|<caption>The SNP A143T. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:A143T_localization"> |
||
+ | [[File:Fabry A143T localization.png|150px|thumb|right|<caption>The position of the SNP A143T in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:A143T_transformation"> |
||
+ | [[File:Fabry A143T transformation.gif|150px|thumb|right|<caption>The SNP A143T. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">N215S</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:N215S_rotation"> |
||
+ | [[File:Fabry N215S rotation.gif|150px|thumb|right|<caption>The SNP N215S. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:N215S_localization"> |
||
+ | [[File:Fabry N215S localization.png|150px|thumb|right|<caption>The position of the SNP N215S in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:N215S_transformation"> |
||
+ | [[File:Fabry N215S transformation.gif|150px|thumb|right|<caption>The SNP N215S. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">Q279E</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:Q279E_rotation"> |
||
+ | [[File:Fabry Q279E rotation.gif|150px|thumb|right|<caption>The SNP Q279E. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:Q279E_localization"> |
||
+ | [[File:Fabry Q279E localization.png|150px|thumb|right|<caption>The position of the SNP Q279E in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:Q279E_transformation"> |
||
+ | [[File:Fabry Q279E transformation.gif|150px|thumb|right|<caption>The SNP Q279E. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">I289V</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:I289V_rotation"> |
||
+ | [[File:Fabry I289V rotation.gif|150px|thumb|right|<caption>The SNP I289V. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:I289V_localization"> |
||
+ | [[File:Fabry I289V localization.png|150px|thumb|right|<caption>The position of the SNP I289V in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:I289V_transformation"> |
||
+ | [[File:Fabry I289V transformation.gif|150px|thumb|right|<caption>The SNP I289V. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">V316I</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:V316I_rotation"> |
||
+ | [[File:Fabry V316I rotation.gif|150px|thumb|right|<caption>The SNP V316I. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:V316I_localization"> |
||
+ | [[File:Fabry V316I localization.png|150px|thumb|right|<caption>The position of the SNP V316I in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:V316I_transformation"> |
||
+ | [[File:Fabry V316I transformation.gif|150px|thumb|right|<caption>The SNP V316I. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">P323T</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:P323T_rotation"> |
||
+ | [[File:Fabry P323T rotation.gif|150px|thumb|right|<caption>The SNP P323T. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:P323T_localization"> |
||
+ | [[File:Fabry P323T localization.png|150px|thumb|right|<caption>The position of the SNP P323T in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:P323T_transformation"> |
||
+ | [[File:Fabry P323T transformation.gif|150px|thumb|right|<caption>The SNP P323T. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <div style="border: 1px dotted #000; float: left; margin: 0px 10px 10px; padding-right: 5px; width: 370px;"> |
||
+ | <p style="float: left; font-size: 20pt; font-weight: bold; margin: 40px 10px 0px 40px;">R356W</p> |
||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:R356W_rotation"> |
||
+ | [[File:Fabry R356W rotation.gif|150px|thumb|right|<caption>The SNP R356W. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: left; margin-top: 20px;"> |
||
+ | <figure id="fig:R356W_localization"> |
||
+ | [[File:Fabry R356W localization.png|150px|thumb|right|<caption>The position of the SNP R356W in the α-galactosidase protein is marked in purple.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | |||
+ | <div style="float: right;"> |
||
+ | <figure id="fig:R356W_transformation"> |
||
+ | [[File:Fabry R356W transformation.gif|150px|thumb|right|<caption>The SNP R356W. The wild type amino acid is colored in green, the mutation in red.</caption>]] |
||
+ | </figure> |
||
+ | </div> |
||
+ | </div> |
||
+ | |||
+ | <br style="clear: both;"> |
||
+ | |||
+ | == Secondary Structure == |
||
+ | <div style="float:left; border:thin solid lightgrey; margin: 0px 20px 0px 0px;"> |
||
<figtable id="tab:Location"> |
<figtable id="tab:Location"> |
||
+ | <caption>Secondary structure assignment predicted by the three methods Psipred, Reprof and DSSP in [[Fabry:Sequence-based_analyses#Alpha-galactosidase_A_.28P06280.29 |Task 3]] for the mutated amino acid itself and<br>the ten adjacent residues to the left and to the right.<br>H represents a helix at this position, C represents coiled regions, E sheets and - is a not predictable region</caption> |
||
− | <caption>Physicochemical properties of the chosen SNPs and changes of properties between wildtype (wt) and mutant (mt)</caption> |
||
− | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
+ | {| class="wikitable sortable" style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
||
− | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc |
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc<br>Psipred |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc Psipred<br>long |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc Psipred<br>long |
||
− | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc |
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc<br>Reprof |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc Reprof<br>long |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc Reprof<br>long |
||
− | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc |
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc<br>DSSP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 2px 0;"| SecStruc DSSP<br>long |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 2px 0;"| SecStruc DSSP<br>long |
||
|- |
|- |
||
Line 343: | Line 635: | ||
</figtable> |
</figtable> |
||
</div> |
</div> |
||
+ | Despite the fact, we know from last weeks' task, that the disease causing mutations are spread all over the protein without any respect to the secondary structure, we assumed we had no prior knowledge about it. Thus we looked at the predicted secondary structure at the position of each point mutation and its surrounding (10 residues to the left and 10 residues to the right). The only remarkable fact is, that there are (almost) no sheets at the mutated residues. From [[Fabry:Mapping_point_mutations#Mapping | Task 6]] we know, that this happened only by chance and due to the small amount of picked SNPs. |
||
− | |||
<br style="clear:both"> |
<br style="clear:both"> |
||
== Substitution matrices == |
== Substitution matrices == |
||
− | <div style="float:left; border:thin solid lightgrey; margin: |
+ | <div style="float:left; border:thin solid lightgrey; margin: 0px 20px 0px 0px;"> |
<figtable id="tab:Subsmatr"> |
<figtable id="tab:Subsmatr"> |
||
− | <caption>Substitution values for all SNPs, |
+ | <caption>Substitution values for all SNPs,<br>assigned by the three substitution matrices<br>BLOSUM62, PAM1 and PAM250.</caption> |
− | {| |
+ | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
||
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Value<br>BLOSUM62 |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Value<br>BLOSUM62 |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"|Value<br>PAM1 |
||
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 2px 0;"|Value<br>PAM250 |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 2px 0;"|Value<br>PAM250 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Q279E |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Q279E |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 3 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 27 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 2 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 2 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| N215S |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| N215S |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 1 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 20 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| I289V |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| I289V |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 33 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 4 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 4 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| S65T |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| S65T |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 2 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 38 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R356W |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R356W |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| - |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -4 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 8 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 2 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 2 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| V316I |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| V316I |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 57 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 4 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 4 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P323T |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P323T |
||
− | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| - |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -2 |
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 4 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 0 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 0 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P40S |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P40S |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -1 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| -1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 12 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R118H |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R118H |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 10 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 2 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 2 |
||
|- |
|- |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| A143T |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| A143T |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; text-align:right"| 32 |
||
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
| style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0 1px 0; text-align:right"| 1 |
||
|- |
|- |
||
Line 398: | Line 701: | ||
</figtable> |
</figtable> |
||
</div> |
</div> |
||
+ | Since the PAM1 and the PAM250 matrices are designed for proteins of very diverse degree of kinship, 99% and ~20% relationship, respectively, those two matrices tend to give contradictory scores of how likely a substitution is. On the other hand, BLOSUM62 and PAM1, although the BLOSUM matrix was created from sequences with identity of less than 62 percent, usually provide similar predictions. |
||
− | |||
<br style="clear:both"> |
<br style="clear:both"> |
||
== PSSM == |
== PSSM == |
||
+ | |||
− | * Getting a bit closer to evolution you will have to create a PSSM (position specific scoring matrix) for your protein sequence using PSI-BLAST (5 iterations). How conserved are the WT residues in your mutant positions? How is the frequency of occurrence (conservation) for the mutant residue type? Anything interesting? |
||
+ | <figtable id="tab:pssm"> |
||
+ | <caption>The occurrence of the wild and mutation type according to the [https://dl.dropbox.com/u/13796643/fabry/seqbased/data/psi_results_big.pssm pssm] generated by Psi-Blast</caption> |
||
+ | {| class="wikitable sortable" style="border-spacing: 0px;" |
||
+ | ! style="border: 2px solid #000; border-width: 0px 2px 2px 0px;" | conservation of |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | P40S |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | S65T |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | R118H |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | A143T |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | N215S |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | Q279E |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | I289V |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | V316I |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | P323T |
||
+ | ! style="border-bottom: 2px solid #000; padding: 5px;" | R356W |
||
+ | |- |
||
+ | | style="border-right: 2px solid #000; padding: 5px;" | wild type |
||
+ | | style="padding: 5px;" | 81% |
||
+ | | style="padding: 5px;" | '''16%''' |
||
+ | | style="padding: 5px;" | 8% |
||
+ | | style="padding: 5px;" | 11% |
||
+ | | style="padding: 5px;" | 6% |
||
+ | | style="padding: 5px;" | '''12%''' |
||
+ | | style="padding: 5px;" | 17% |
||
+ | | style="padding: 5px;" | 29% |
||
+ | | style="padding: 5px;" | 15% |
||
+ | | style="padding: 5px;" | 15% |
||
+ | |- |
||
+ | | style="border-right: 2px solid #000; padding: 0px 5px;" | mutant type |
||
+ | | style="padding: 0px 5px;" | 2% |
||
+ | | style="padding: 0px 5px;" | '''20%''' |
||
+ | | style="padding: 0px 5px;" | 2% |
||
+ | | style="padding: 0px 5px;" | 6% |
||
+ | | style="padding: 0px 5px;" | 4% |
||
+ | | style="padding: 0px 5px;" | '''38%''' |
||
+ | | style="padding: 0px 5px;" | 11% |
||
+ | | style="padding: 0px 5px;" | 19% |
||
+ | | style="padding: 0px 5px;" | 7% |
||
+ | | style="padding: 0px 5px;" | 4% |
||
+ | |- |
||
+ | |} |
||
+ | </figtable> |
||
== Multiple sequence alignment == |
== Multiple sequence alignment == |
||
Line 412: | Line 756: | ||
<figtable id="tab:Sift"> |
<figtable id="tab:Sift"> |
||
<caption>Sift Scores</caption> |
<caption>Sift Scores</caption> |
||
− | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
+ | {| class="wikitable sortable" style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
||
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Prediction |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Prediction |
||
Line 480: | Line 824: | ||
<figtable id="tab:Polyphen"> |
<figtable id="tab:Polyphen"> |
||
<caption>Polyphen Scores</caption> |
<caption>Polyphen Scores</caption> |
||
− | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
+ | {| class="wikitable sortable" style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
||
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| rs ID |
! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| rs ID |
||
Line 594: | Line 938: | ||
</figtable> |
</figtable> |
||
</div> |
</div> |
||
− | |||
[http://genetics.bwh.harvard.edu/pph2/ Polyphen2] |
[http://genetics.bwh.harvard.edu/pph2/ Polyphen2] |
||
+ | [http://genetics.bwh.harvard.edu/pph2/dokuwiki/overview#prediction] |
||
<br style="clear:both"> |
<br style="clear:both"> |
||
=== SNAP === |
=== SNAP === |
||
+ | |||
− | ** [https://rostlab.org/owiki/index.php/Snap SNAP] is installed on the VirtualBox and should be used command-line only. -- As blast is the bottleneck of SNAP, and you are doing that anyway, we might as well look at ''all'' possible substitutions in the position of our mutations. This way we can learn much more about the nature of the given mutation: Is our mutation problematic because we introduce an unwanted effect, or because the WT residue is essential and by mutating we remove that? |
||
+ | <xr id="tab:snap2"/> contains the SNAP2 predictions for the ten SNPs listed in section [[#Dataset|Dataset]]. There is also a [[Fabry:Sequence-based mutation analysis/SNAP2|more comprehensive results table]] that includes the predictions for all possible single point mutations at the ten given sequence positions. |
||
+ | |||
+ | |||
+ | <figtable id="tab:snap2"> |
||
+ | <caption>Predictions by SNAP2 of the effect of SNPs relative to the wild type</caption> |
||
+ | {| class="wikitable sortable" style="border-spacing: 0px; text-align: center;" |
||
+ | ! style="border-bottom: 2px solid #000; padding: 0px 5px;" | Mutation |
||
+ | ! style="border: 1px solid #000; border-width: 0px 0px 2px 1px; padding: 0px 5px;" | Binary prediction |
||
+ | ! style="border: 1px solid #000; border-width: 0px 0px 2px 1px; padding: 0px 5px;" | Reliability Index |
||
+ | ! style="border: 1px solid #000; border-width: 0px 0px 2px 1px; padding: 0px 5px;" | Expected Accuracy |
||
+ | ! style="border: 1px solid #000; border-width: 0px 0px 2px 1px; padding: 0px 5px;" | Total of neutral<br>mutations at this position |
||
+ | ! style="border: 1px solid #000; border-width: 0px 0px 2px 1px; padding: 0px 5px;" | Total of non-neutral<br>mutations at this position |
||
+ | |- |
||
+ | | P40S |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 0 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 51% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 2 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 17 |
||
+ | |- |
||
+ | | S65T |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 6 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 79% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 17 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 2 |
||
+ | |- |
||
+ | | R118H |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Non-neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 1 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 60% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 5 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 14 |
||
+ | |- |
||
+ | | A143T |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 7 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 85% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 18 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 1 |
||
+ | |- |
||
+ | | N215S |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 7 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 85% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 18 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 1 |
||
+ | |- |
||
+ | | Q279E |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 6 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 79% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 18 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 1 |
||
+ | |- |
||
+ | | I289V |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 8 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 91% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 13 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 6 |
||
+ | |- |
||
+ | | V316I |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 8 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 91% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 16 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 3 |
||
+ | |- |
||
+ | | P323T |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 4 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 67% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 17 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 2 |
||
+ | |- |
||
+ | | R356W |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | Non-neutral |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 5 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 75% |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 6 |
||
+ | | style="border-left: 1px solid #000; padding: 0px 5px;" | 13 |
||
+ | |- |
||
+ | |} |
||
+ | </figtable> |
||
+ | |||
<br style="clear:both"> |
<br style="clear:both"> |
||
== Results and Conclusion == |
== Results and Conclusion == |
||
+ | <div style="float:left; border:thin solid lightgrey; margin: 0px 0px 20px 0px;"> |
||
− | * Compare '''ALL''' results and create an overview table. |
||
+ | <figtable id="tab:Overview"> |
||
− | * Try to come up with a consensus between all the findings requested above. |
||
+ | <caption>This table gives an overview over all features examined in the sections above. The red background color indicates a disease causing prediction, the green color a non-disease causing one. In the end all red fields are summed up for each row and the resulting value leads to our prediction given in <xr id="tab:Result"/>.<br>Used abbreviation in this table:<br> AA: Amino Acid, Pol: Side-chain polarity, Charge: Side-chain charge at pH 7.4, HI: Hydropathy index, RM: Residue Mass, iP: isoelectric point</caption> |
||
− | * Check whether you are right in the HGMD – were you able to predict a change? |
||
+ | {| class="wikitable sortable" style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in Pol |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in Charge |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in HI |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in RM |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| change in iP |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc Psipred |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc Reprof |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SecStruc DSSP |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Value<br>BLOSUM62 |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"|Value<br>PAM1 |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"|Value<br>PAM250 |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| Sift Score |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| pph2 Class |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNAP prediction |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 2px 3px; text-align:right"| Sum<br>bad scores |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| A143T |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| nonpolar to<br>polar |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -2.5 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 30.026 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| -0.41 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 32 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.01 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 6 |
||
+ | |- |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R356W |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| polar to<br>nonpolar |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| positive to<br>neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 3.6 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 30.025 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -4.87 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| - |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 8 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 2 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.01 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| non-neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 10 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| I289V |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| -0.3 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -14.027 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| -0.05 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 33 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.05 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 5 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| V316I |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.3 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 14.027 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.05 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| E |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 57 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.75 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 4 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R118H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| positive to pos(10%),<br>neutr(90%) |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 1.3 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -19.046 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -3.16 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 10 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 2 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.06 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| non-neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 9 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| N215S |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 2.7 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -27.026 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.27 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 20 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.01 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 7 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Q279E |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| neutral to<br>negative |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.99 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -2.5 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 3 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 27 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 2 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.00 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 7 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P40S |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| nonpolar to<br>polar |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.8 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -10.039 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| -0.62 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| - |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 12 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.00 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 7 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| S65T |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 14.027 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| -0.08 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 2 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 38 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 1 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.01 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 7 |
||
+ | |- |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P323T |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F"| nonpolar to<br>polar |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A"| none |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 0.9 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| 3.988 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| -0.7 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| C |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| -2 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| 0.01 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#FCA17F; text-align:right"| deleterious |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0; background-color:#C9E69A; text-align:right"| neutral |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 3px; text-align:right"| 6 |
||
+ | |- |
||
+ | |- |
||
+ | |} |
||
+ | </figtable> |
||
+ | </div> |
||
+ | |||
+ | <div style="float:left; border:thin solid lightgrey; margin: 0px 20px 0px 0px;"> |
||
+ | <figtable id="tab:Result"> |
||
+ | <caption>All examined SNPs with the "sum bad score" according to <xr id="tab:Overview"/> and our resulting<br>prediction. The table also shows if the SNP truly is disease causing or not and whether our sequence<br>based prediction is true</caption> |
||
+ | {| class="wikitable sortable" style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 2px 0;"| SNP |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 2px 0px; text-align:right"| Sum<br>bad scores |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 2px 0px; text-align:right"| Prediction |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 2px 0px; text-align:right"| True classification |
||
+ | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 2px 0px; text-align:right"| Result prediction |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| A143T |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 6 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Wrong |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R356W |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 10 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| I289V |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 5 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| V316I |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 4 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| R118H |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 9 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Wrong |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| N215S |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 7 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Q279E |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 7 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P40S |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 7 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| S65T |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 7 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| P323T |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| 6 |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 1px 1px 0px; text-align:right"| Non-disease causing |
||
+ | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0px 0px 1px 0px; text-align:right"| Right |
||
+ | |- |
||
+ | |} |
||
+ | </figtable> |
||
+ | </div> |
||
+ | In <xr id="tab:Overview"/> we list all afore gathered information in condensed form and highlight values that we consider as an indicator for a disease causing mutation with red color. Results contained in green colored fields are considered neutral. The summed up score of disease indicators is again shown in <xr id="tab:Result"/> along with our prediction for each SNP. Mutations with score smaller than 7 are considered neutral, greater or equal to that disease causing. Next to the prediction we show the true classification of the single nucleotide polymorphism acording to the mapping we did in [[Fabry:Annotated_SNPs |Task 6]]. We show that only two of the ten predictions are wrong, which we consider as a surprisingly good result.<br> |
||
+ | |||
+ | |||
+ | <br style="clear:both"> |
||
+ | |||
+ | == References == |
||
+ | <references/> |
Latest revision as of 12:27, 20 June 2012
Fabry Disease » Sequence-based mutation analysis
The following analyses were performed on the basis of the α-Galactosidase A sequence. Please consult the journal for the commands used to generate the results.
Contents
Dataset
Q279E N215S I289V S65T R356W V316I P323T P40S R118H A143T
Amino acid properties
<figtable id="tab:aaProp">
Physicochemical properties of the chosen SNPs and changes of properties between wildtype (wt) and mutant (mt).
Used abbreviation in this table:
AA: Amino Acid, Pol: Side-chain polarity, Charge: Side-chain charge at pH 7.4, HI: Hydropathy index, RM: Residue Mass, iP: isoelectric point
SNP | wt AA |
wt Pol |
wt Charge |
wt HI |
wt RM |
wt iP |
mt AA |
mt Pol |
mt Charge |
mt HI |
mt RM |
mt iP |
change in Pol | change in Charge | change in HI | change in RM | change in iP |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q279E | Q | polar | neutral | -3.5 | 128.131 | 5.65 | E | polar | negative | -3.5 | 129.116 | 3.15 | none | neutral to negative |
0 | 0.99 | -2.5 |
N215S | N | polar | neutral | -3.5 | 114.104 | 5.41 | S | polar | neutral | -0.8 | 87.078 | 5.68 | none | none | 2.7 | -27.026 | 0.27 |
I289V | I | nonpolar | neutral | 4.5 | 113.160 | 6.05 | V | nonpolar | neutral | 4.2 | 99.133 | 6.00 | none | none | -0.3 | -14.027 | -0.05 |
S65T | S | polar | neutral | -0.8 | 87.078 | 5.68 | T | polar | neutral | -0.7 | 101.105 | 5.60 | none | none | 0.1 | 14.027 | -0.08 |
R356W | R | polar | positive | -4.5 | 156.188 | 10.76 | W | nonpolar | neutral | -0.9 | 186.213 | 5.89 | polar to nonpolar |
positive to neutral |
3.6 | 30.025 | -4.87 |
V316I | V | nonpolar | neutral | 4.2 | 99.133 | 6.00 | I | nonpolar | neutral | 4.5 | 113.160 | 6.05 | none | none | 0.3 | 14.027 | 0.05 |
P323T | P | nonpolar | neutral | -1.6 | 97.117 | 6.30 | T | polar | neutral | -0.7 | 101.105 | 5.60 | nonpolar to polar |
none | 0.9 | 3.988 | -0.7 |
P40S | P | nonpolar | neutral | -1.6 | 97.117 | 6.30 | S | polar | neutral | -0.8 | 87.078 | 5.68 | nonpolar to polar |
none | 0.8 | -10.039 | -0.62 |
R118H | R | polar | positive | -4.5 | 156.188 | 10.76 | H | polar | pos(10%), neutr(90%) |
-3.2 | 137.142 | 7.60 | none | positive to pos(10%), neutr(90%) |
1.3 | -19.046 | -3.16 |
A143T | A | nonpolar | neutral | 1.8 | 71.079 | 6.01 | T | polar | neutral | -0.7 | 101.105 | 5.60 | nonpolar to polar |
none | -2.5 | 30.026 | -0.41 |
</figtable>
The polarity of the side chain determines whether an amino acid is hydrophobic or not.
Hydrophobicity is a measure of how soluble an amino acid is in water. Hydrophobic amino acids are more likely to be found inside a protein, while hydrophilic amino acids rather are in contact with the aqueous environment. <ref>Hydrophobicity Index for Common Amino Acids http://www.sigmaaldrich.com/life-science/metabolomics/learning-center/amino-acid-reference-chart.html#hydro, June 16, 2012</ref>
Therefore, depending on the localisation of an amino acid, a change in the polarity due to a mutation can cause a major defect. This may be the case in the SNPs P40S, A143T, P323T and R356W.
Furthermore the type of charge (positive or negative) is important for the structure of a protein, because it controls the binding of the amino acid to close-by residues. A modification again can break the coherence of the protein, which might happen when the mutations R118H, Q279E and R356W occur.
The hydropathy index of an amino acid is a number representing the hydrophobic or hydrophilic properties of its sidechain.<ref>Kyte J, Doolittle RF (May 1982). A simple method for displaying the hydropathic character of a protein. J. Mol. Biol. 157 (1): 105–32. PMID 7108955. </ref>
The larger the number is, the more hydrophobic the amino acid, thus the most hydrophobic amino acid is isoleucine (4.5) and the most hydrophilic one is arginine (-4.5).
Considering a hydropathy change greater than 1 (in both direction, positive and negative) as crucial, only one SNP highly increases the hydrophobicity (A143T) and 3 increase the hydrophilic character of the position (R118H, N215S and R356W)
The average residue mass ranges from 57.052 (Glycine) to 186.213 (Tryptophan), thus we expect an alteration of the mass of greater than 10 as critical. This concerns all mutations expect for Q279E and P323T.
The isoelectric point is the pH at which an amino acid carries no net charge. Below the pI it carries a net positive charge, above it a net negative charge. Since the pH in the human body is on average 6.7, only three amino acids are positively charged (Histidine, Lysine and Arginine). The pI ranges from 2.85 (Aspartic acid) to 10.76 (Arginine), therefore we considered a change of 0.8 as probably desease causing. This applies only for R118H, Q279E and R356W.
Simple structural analysis
P40S
S65T
R118H
A143T
N215S
Q279E
I289V
V316I
P323T
R356W
Secondary Structure
<figtable id="tab:Location">
Secondary structure assignment predicted by the three methods Psipred, Reprof and DSSP in Task 3 for the mutated amino acid itself and
the ten adjacent residues to the left and to the right.
H represents a helix at this position, C represents coiled regions, E sheets and - is a not predictable region
SNP | SecStruc Psipred |
SecStruc Psipred long |
SecStruc Reprof |
SecStruc Reprof long |
SecStruc DSSP |
SecStruc DSSP long |
---|---|---|---|---|---|---|
Q279E | H | CCCCCCCHHHHHHHHHHHHHH | H | EECCCCCCHHHHHHHHHHHHH | H | CCCCC--HHHHHHHHHHHHHC |
N215S | H | CCCCCCCCCCHHHHHCCCCCC | H | CECCCCCCCCHHHHHHHHHHH | H | HHHCCCC---HHHHCCC-CEE |
I289V | H | HHHHHHHHHHHCCCEEEECCC | H | HHHHHHHHHHHHHCHHCCCCC | C | HHHHHHHHHHCC--EEE-C-C |
S65T | H | CCCCCCCCCCHHHHHHHHHHH | H | CCCCCCCHHHHHHHHHHHHHH | H | CCC-CCCC-CHHHHHHHHHHH |
R356W | C | CCEEEEEEECCCCCCEEEEEE | C | HHHHHHHHHHCCCCCCCCHHH | - | CEEEEEEEE---CCC-EEEEE |
V316I | H | HHHCCCCHHHHHHCCCCCCCC | E | HHHHCCCCCEEEECCCCCCCC | H | HHHHHH-HHHHHHHC-CC--- |
P323T | C | HHHHHHCCCCCCCCCEEEEEC | C | CCEEEECCCCCCCCCCEECCC | C | HHHHHHHC-CC----EEEE-C |
P40S | C | CCCCCCCCCCCCCCCCCCCCC | C | HHCCCCCCCCCCCHHHHHHEE | - | ---CC--CC--EEEECHHHHC |
R118H | H | CCCCCCCCHHHHHHHHHHCCC | H | CCCCCCHHHHHHHHHHHCCCC | H | -CCC-CCHHHHHHHHHHHCC- |
A143T | C | EECCCCCCCCCCCCCCCCHHH | C | EEECCCCCCCCCCCCCCCCCC | C | EEECCCE-CCCCE--CCCHHH |
</figtable>
Despite the fact, we know from last weeks' task, that the disease causing mutations are spread all over the protein without any respect to the secondary structure, we assumed we had no prior knowledge about it. Thus we looked at the predicted secondary structure at the position of each point mutation and its surrounding (10 residues to the left and 10 residues to the right). The only remarkable fact is, that there are (almost) no sheets at the mutated residues. From Task 6 we know, that this happened only by chance and due to the small amount of picked SNPs.
Substitution matrices
<figtable id="tab:Subsmatr">
Substitution values for all SNPs,
assigned by the three substitution matrices
BLOSUM62, PAM1 and PAM250.
SNP | Value BLOSUM62 |
Value PAM1 |
Value PAM250 |
---|---|---|---|
Q279E | 3 | 27 | 2 |
N215S | 1 | 20 | 1 |
I289V | 4 | 33 | 4 |
S65T | 2 | 38 | 1 |
R356W | -4 | 8 | 2 |
V316I | 4 | 57 | 4 |
P323T | -2 | 4 | 0 |
P40S | -1 | 12 | 1 |
R118H | 0 | 10 | 2 |
A143T | 0 | 32 | 1 |
</figtable>
Since the PAM1 and the PAM250 matrices are designed for proteins of very diverse degree of kinship, 99% and ~20% relationship, respectively, those two matrices tend to give contradictory scores of how likely a substitution is. On the other hand, BLOSUM62 and PAM1, although the BLOSUM matrix was created from sequences with identity of less than 62 percent, usually provide similar predictions.
PSSM
<figtable id="tab:pssm"> The occurrence of the wild and mutation type according to the pssm generated by Psi-Blast
conservation of | P40S | S65T | R118H | A143T | N215S | Q279E | I289V | V316I | P323T | R356W |
---|---|---|---|---|---|---|---|---|---|---|
wild type | 81% | 16% | 8% | 11% | 6% | 12% | 17% | 29% | 15% | 15% |
mutant type | 2% | 20% | 2% | 6% | 4% | 38% | 11% | 19% | 7% | 4% |
</figtable>
Multiple sequence alignment
- And another step close to evolution: Identify all mammalian homologous sequences. Create a multiple sequence alignment for them with a method of your choice. Using this you can now calculate conservation for WT and mutant residues again. Compare this to the matrix- and PSSM-derived results.
Scoring methods
SIFT
<figtable id="tab:Sift"> Sift Scores
SNP | Prediction | Sift Score | Sequences represented at this position |
---|---|---|---|
P40S | AFFECT PROTEIN FUNCTION | 0.00 | 41 |
S65T | AFFECT PROTEIN FUNCTION | 0.01 | 45 |
R118H | be TOLERATED | 0.06 | 48 |
A143T | AFFECT PROTEIN FUNCTION | 0.01 | 48 |
N215S | AFFECT PROTEIN FUNCTION | 0.01 | 48 |
Q279E | AFFECT PROTEIN FUNCTION | 0.00 | 48 |
I289V | AFFECT PROTEIN FUNCTION | 0.05 | 48 |
V316I | be TOLERATED | 0.75 | 48 |
P323T | AFFECT PROTEIN FUNCTION | 0.01 | 48 |
R356W | AFFECT PROTEIN FUNCTION | 0.01 | 47 |
</figtable>
Median sequence conservation: 2.99
Polyphen2
<figtable id="tab:Polyphen"> Polyphen Scores
SNP | rs ID | Sec Struc | Prediction | pph2 Class | pph2 Prob | pph2 FPR | pph2 TPR | pph2 FDR |
---|---|---|---|---|---|---|---|---|
Q279E | rs28935485 | H | probably damaging | deleterious | 0.983 | 0.0387 | 0.745 | 0.0657 |
N215S | rs28935197 | . | benign | neutral | 0.048 | 0.167 | 0.941 | 0.194 |
I289V | ? | H | probably damaging | deleterious | 0.975 | 0.0436 | 0.762 | 0.072 |
S65T | ? | . | probably damaging | deleterious | 0.995 | 0.0277 | 0.681 | 0.0521 |
R356W | ? | . | probably damaging | deleterious | 1 | 0.00026 | 0.00018 | 0.0109 |
V316I | ? | H | benign | neutral | 0.308 | 0.113 | 0.904 | 0.144 |
P323T | ? | T | possibly damaging | deleterious | 0.612 | 0.091 | 0.872 | 0.124 |
P40S | ? | . | probably damaging | deleterious | 1 | 0.00026 | 0.00018 | 0.0109 |
R118H | ? | H | benign | neutral | 0.015 | 0.209 | 0.956 | 0.229 |
A143T | ? | T | probably damaging | deleterious | 1 | 0.00026 | 0.00018 | 0.0109 |
</figtable>
SNAP
<xr id="tab:snap2"/> contains the SNAP2 predictions for the ten SNPs listed in section Dataset. There is also a more comprehensive results table that includes the predictions for all possible single point mutations at the ten given sequence positions.
<figtable id="tab:snap2">
Predictions by SNAP2 of the effect of SNPs relative to the wild type
Mutation | Binary prediction | Reliability Index | Expected Accuracy | Total of neutral mutations at this position |
Total of non-neutral mutations at this position |
---|---|---|---|---|---|
P40S | Neutral | 0 | 51% | 2 | 17 |
S65T | Neutral | 6 | 79% | 17 | 2 |
R118H | Non-neutral | 1 | 60% | 5 | 14 |
A143T | Neutral | 7 | 85% | 18 | 1 |
N215S | Neutral | 7 | 85% | 18 | 1 |
Q279E | Neutral | 6 | 79% | 18 | 1 |
I289V | Neutral | 8 | 91% | 13 | 6 |
V316I | Neutral | 8 | 91% | 16 | 3 |
P323T | Neutral | 4 | 67% | 17 | 2 |
R356W | Non-neutral | 5 | 75% | 6 | 13 |
</figtable>
Results and Conclusion
<figtable id="tab:Overview">
This table gives an overview over all features examined in the sections above. The red background color indicates a disease causing prediction, the green color a non-disease causing one. In the end all red fields are summed up for each row and the resulting value leads to our prediction given in <xr id="tab:Result"/>.
Used abbreviation in this table:
AA: Amino Acid, Pol: Side-chain polarity, Charge: Side-chain charge at pH 7.4, HI: Hydropathy index, RM: Residue Mass, iP: isoelectric point
SNP | change in Pol | change in Charge | change in HI | change in RM | change in iP | SecStruc Psipred | SecStruc Reprof | SecStruc DSSP | Value BLOSUM62 |
Value PAM1 |
Value PAM250 |
Sift Score | pph2 Class | SNAP prediction | Sum bad scores |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A143T | nonpolar to polar |
none | -2.5 | 30.026 | -0.41 | C | C | C | 0 | 32 | 1 | 0.01 | deleterious | neutral | 6 |
R356W | polar to nonpolar |
positive to neutral |
3.6 | 30.025 | -4.87 | C | C | - | -4 | 8 | 2 | 0.01 | deleterious | non-neutral | 10 |
I289V | none | none | -0.3 | -14.027 | -0.05 | H | H | C | 4 | 33 | 4 | 0.05 | deleterious | neutral | 5 |
V316I | none | none | 0.3 | 14.027 | 0.05 | H | E | H | 4 | 57 | 4 | 0.75 | neutral | neutral | 4 |
R118H | none | positive to pos(10%), neutr(90%) |
1.3 | -19.046 | -3.16 | H | H | H | 0 | 10 | 2 | 0.06 | neutral | non-neutral | 9 |
N215S | none | none | 2.7 | -27.026 | 0.27 | H | H | H | 1 | 20 | 1 | 0.01 | neutral | neutral | 7 |
Q279E | none | neutral to negative |
0 | 0.99 | -2.5 | H | H | H | 3 | 27 | 2 | 0.00 | deleterious | neutral | 7 |
P40S | nonpolar to polar |
none | 0.8 | -10.039 | -0.62 | C | C | - | -1 | 12 | 1 | 0.00 | deleterious | neutral | 7 |
S65T | none | none | 0.1 | 14.027 | -0.08 | H | H | H | 2 | 38 | 1 | 0.01 | deleterious | neutral | 7 |
P323T | nonpolar to polar |
none | 0.9 | 3.988 | -0.7 | C | C | C | -2 | 4 | 0 | 0.01 | deleterious | neutral | 6 |
</figtable>
<figtable id="tab:Result">
All examined SNPs with the "sum bad score" according to <xr id="tab:Overview"/> and our resulting
prediction. The table also shows if the SNP truly is disease causing or not and whether our sequence
based prediction is true
SNP | Sum bad scores |
Prediction | True classification | Result prediction |
---|---|---|---|---|
A143T | 6 | Non-disease causing | Disease causing | Wrong |
R356W | 10 | Disease causing | Disease causing | Right |
I289V | 5 | Non-disease causing | Non-disease causing | Right |
V316I | 4 | Non-disease causing | Non-disease causing | Right |
R118H | 9 | Disease causing | Non-disease causing | Wrong |
N215S | 7 | Disease causing | Disease causing | Right |
Q279E | 7 | Disease causing | Disease causing | Right |
P40S | 7 | Disease causing | Disease causing | Right |
S65T | 7 | Disease causing | Disease causing | Right |
P323T | 6 | Non-disease causing | Non-disease causing | Right |
</figtable>
In <xr id="tab:Overview"/> we list all afore gathered information in condensed form and highlight values that we consider as an indicator for a disease causing mutation with red color. Results contained in green colored fields are considered neutral. The summed up score of disease indicators is again shown in <xr id="tab:Result"/> along with our prediction for each SNP. Mutations with score smaller than 7 are considered neutral, greater or equal to that disease causing. Next to the prediction we show the true classification of the single nucleotide polymorphism acording to the mapping we did in Task 6. We show that only two of the ten predictions are wrong, which we consider as a surprisingly good result.
References
<references/>