Difference between revisions of "Sequence-based mutation analysis"
From Bioinformatikpedia
(→SNP's) |
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!Position |
!Position |
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!Database |
!Database |
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+ | !Blosum62 Score |
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+ | !Pam250 Score |
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!Physicochemical changes |
!Physicochemical changes |
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− | | S/C || 65 || HGMD/dbSNP |
+ | | S/C || 65 || HGMD/dbSNP || -1 || 3 |
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− | | I/T || 105 || HGMD/dbSNP |
+ | | I/T || 105 || HGMD/dbSNP || -1 || 6 |
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− | | Q/H || 127 || HGMD/dbSNP |
+ | | Q/H || 127 || HGMD/dbSNP || 0 || 7 |
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− | | C/Y,S || 282 || HGMD/dbSNP |
+ | | C/Y,S || 282 || HGMD/dbSNP || -2/-1 |
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− | | R/M || 330 || HGMD |
+ | | R/M || 330 || HGMD || -1 || 1 |
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− | | A/V || 176 || HGMD |
+ | | A/V || 176 || HGMD || 0 || 9 |
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− | | R/S || 6 || HGMD |
+ | | R/S || 6 || HGMD || -1 || 6 |
+ | |- |
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+ | | T/I || 217 || dbSNP || -1 || 4 |
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+ | | M/T || 35 || dbSNP || -1 || 5 |
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+ | | R/M || 58 || dbSNP || -1 || 1 |
− | |- |
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− | | R/M || 58 || dbSNP |
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Revision as of 19:57, 25 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 Score | Pam250 Score | Physicochemical changes |
---|---|---|---|---|---|
S/C | 65 | HGMD/dbSNP | -1 | 3 | |
I/T | 105 | HGMD/dbSNP | -1 | 6 | |
Q/H | 127 | HGMD/dbSNP | 0 | 7 | |
C/Y,S | 282 | HGMD/dbSNP | -2/-1 | ||
R/M | 330 | HGMD | -1 | 1 | |
A/V | 176 | HGMD | 0 | 9 | |
R/S | 6 | HGMD | -1 | 6 | |
T/I | 217 | dbSNP | -1 | 4 | |
M/T | 35 | dbSNP | -1 | 5 | |
R/M | 58 | dbSNP | -1 | 1 |