Difference between revisions of "Sequence-based mutation analysis"
From Bioinformatikpedia
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!Position |
!Position |
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!Prediction |
!Prediction |
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+ | !Score |
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!Cause disease |
!Cause disease |
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− | | S/C || 65 || || yes |
+ | | S/C || 65 || PROBABLY DAMAGING || 0.997 || yes |
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− | | I/T || 105 || || yes |
+ | | I/T || 105 || || || yes |
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− | | Q/H || 127 || || yes |
+ | | Q/H || 127 || || || yes |
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− | | C/Y,S || 282 || || yes |
+ | | C/Y,S || 282 || || || yes |
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− | | R/M || 330 || || yes |
+ | | R/M || 330 || || || yes |
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− | | A/V || 176 || || yes |
+ | | A/V || 176 || || || yes |
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− | | R/S || 6 || || yes |
+ | | R/S || 6 || || || yes |
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− | | T/I || 217 || || |
+ | | T/I || 217 || || || |
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− | | M/T || 35 || || |
+ | | M/T || 35 || || || |
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− | | R/M || 58 || || |
+ | | R/M || 58 || || || |
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Revision as of 11:50, 26 June 2011
SNP's
Because the HFE-Gen has no annotated functional site, we can just adress the biochemical changes for each SNP. A change in functionality or stability can not described.
To compare the biochemical properties of the amino acid's, we used the very convenient function of wolfram alpha.
Mutation | Position | Database | Blosum62 | PAM1 | Pam250 | Physicochemical changes |
---|---|---|---|---|---|---|
S/C | 65 | HGMD/dbSNP | -1 | 5 | 3 | |
I/T | 105 | HGMD/dbSNP | -1 | 11 | 6 | |
Q/H | 127 | HGMD/dbSNP | 0 | 20 | 7 | |
C/Y,S | 282 | HGMD/dbSNP | -2/-1 | 3/11 | 3/7 | |
R/M | 330 | HGMD | -1 | 1 | 1 | |
A/V | 176 | HGMD | 0 | 13 | 9 | |
R/S | 6 | HGMD | -1 | 11 | 6 | |
T/I | 217 | dbSNP | -1 | 7 | 4 | |
M/T | 35 | dbSNP | -1 | 6 | 5 | |
R/M | 58 | dbSNP | -1 | 1 | 1 |
SIFT
Mutation | Position | Prediction | Cause disease |
---|---|---|---|
S/C | 65 | AFFECT PROTEIN FUNCTION | yes |
I/T | 105 | AFFECT PROTEIN FUNCTION | yes |
Q/H | 127 | TOLERATED | yes |
C/Y,S | 282 | AFFECT PROTEIN FUNCTION | yes |
R/M | 330 | TOLERATED | yes |
A/V | 176 | AFFECT PROTEIN FUNCTION | yes |
R/S | 6 | AFFECT PROTEIN FUNCTION | yes |
T/I | 217 | TOLERATED | |
M/T | 35 | TOLERATED | |
R/M | 58 | AFFECT PROTEIN FUNCTION |
The complete prediction for each position and amino acid can be found here
We got three warning messages form SIFT for which we have no explanation at this time.
WARNING: Original amino acid H at position 31 is not allowed by the prediction. WARNING: Original amino acid S at position 45 is not allowed by the prediction. WARNING: Original amino acid Y at position 230 is not allowed by the prediction.
PolyPhen-2
Mutation | Position | Prediction | Score | Cause disease |
---|---|---|---|---|
S/C | 65 | PROBABLY DAMAGING | 0.997 | yes |
I/T | 105 | yes | ||
Q/H | 127 | yes | ||
C/Y,S | 282 | yes | ||
R/M | 330 | yes | ||
A/V | 176 | yes | ||
R/S | 6 | yes | ||
T/I | 217 | |||
M/T | 35 | |||
R/M | 58 |