Difference between revisions of "Sequence-based mutation analysis"
From Bioinformatikpedia
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| Q/H || 127 || HGMD/dbSNP || 0 || 7 |
| Q/H || 127 || HGMD/dbSNP || 0 || 7 |
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| − | | C/Y,S || 282 || HGMD/dbSNP || -2/-1 |
+ | | C/Y,S || 282 || HGMD/dbSNP || -2/-1 || 3/7 |
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| R/M || 330 || HGMD || -1 || 1 |
| R/M || 330 || HGMD || -1 || 1 |
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Revision as of 18:58, 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 | 3/7 | |
| 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 |
