Difference between revisions of "Sequence-based mutation analysis Gaucher Disease"

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(→‎Mutations)
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| 10 || 83 || R || S
  
| 10 || 83 || R || S
 
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<caption>Randomly selected mutations from HGMD and dbSNP which were used for the sequence-based mutation analysis.</caption>
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</figtable>
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== Physicochemical properties ==
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<figtable id="tab:props">
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{| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 2px 0 2px 0; text-align:center" width="750px"
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|- style="background-color:lightgrey"
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! rowspan="2" | Nr
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! colspan="5" style="text-align:center; border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 1px 1px" | Wildtype
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! colspan="5" style="text-align:center; border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 1px 1px" | Mutant
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! rowspan="2" style="text-align:center; border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 1px 1px" | Severe change
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|- style="background-color:lightgrey"
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! style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px" |AA
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! Charge
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! Polarity
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! Size
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! Aromatic
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! style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px" | AA
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! Charge
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! Polarity
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! Size
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! Aromatic
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|-
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| colspan="11" style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 1px 0 0 0"|
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|-
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| 1
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | H
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| negative || polar || large || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | R
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| negative || polar || large || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | no
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|-
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| 2
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | V
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| neutral || unpolar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | I
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| neutral || unpolar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | no
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|-
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| 3
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | E
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| positive || polar || large || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | K
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| negative || polar || large || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | yes
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|-
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| 4
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | L
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| neutral || unpolar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | P
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| neutral || unpolar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | no
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|-
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| 5
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | W
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| neutral || unpolar || large || yes
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | R
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| negative || polar || large || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | yes
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|-
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| 6
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | R
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| negative || polar || large || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | C
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| neutral || polar || small || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | yes
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|-
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| 7
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | W
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| neutral || unpolar || large || yes
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | C
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| neutral || polar || small || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | yes
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|-
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| 8
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | A
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| neutral || unpolar || small || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | D
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| positive || polar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | yes
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|-
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| 9
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | D
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| positive || polar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | N
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| neutral || polar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | no
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|-
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| 10
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | R
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| negative || polar || medium || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | S
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| neutral || polar || small || no
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| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 0 0 0 1px; font-weight:bold" | no
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|}
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<caption>Physicochemical properiets of the wildtype and mutatant amino acid which are used to classify the mutation as severe or non-severe.</caption>
 
</figtable>
  
</figtable>

Revision as of 15:52, 14 June 2012

The aim of this task was to carry out a thorough analysis of ten mutations and to classify them as disease-causing and non-disease causing. The mutations have been selected by another group from our [Researching SNPs Gaucher Disease|set of collected mutations] such that their impact had been unknown for us prior to this task. Technical details are reported in our protocol.

Mutations

<figtable id="tab:mutations">

Nr Position From To
1 99 H R
2 211 V I
3 150 E K
4 236 L P
5 248 W R
6 534 R C
7 351 W C
8 423 A D
9 482 D N
10 83 R S

Randomly selected mutations from HGMD and dbSNP which were used for the sequence-based mutation analysis. </figtable>

Physicochemical properties

<figtable id="tab:props">

Nr Wildtype Mutant Severe change
AA Charge Polarity Size Aromatic AA Charge Polarity Size Aromatic
1 H negative polar large no R negative polar large no no
2 V neutral unpolar medium no I neutral unpolar medium no no
3 E positive polar large no K negative polar large no yes
4 L neutral unpolar medium no P neutral unpolar medium no no
5 W neutral unpolar large yes R negative polar large no yes
6 R negative polar large no C neutral polar small no yes
7 W neutral unpolar large yes C neutral polar small no yes
8 A neutral unpolar small no D positive polar medium no yes
9 D positive polar medium no N neutral polar medium no no
10 R negative polar medium no S neutral polar small no no

Physicochemical properiets of the wildtype and mutatant amino acid which are used to classify the mutation as severe or non-severe. </figtable>

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