Sequence-based mutation analysis
From Bioinformatikpedia
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 | Pam250 | 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 |
SIFT
| Mutation | Position | Prediction | Cause disease |
|---|---|---|---|
| S/C | 65 | AFFECT PROTEIN FUNCTION<\font> | yes |
| I/T | 105 | AFFECT PROTEIN FUNCTION<\font> | yes |
| Q/H | 127 | TOLERATED | yes |
| C/Y,S | 282 | AFFECT PROTEIN FUNCTION<\font> | yes |
| R/M | 330 | TOLERATED | yes |
| A/V | 176 | AFFECT PROTEIN FUNCTION<\font> | yes |
| R/S | 6 | AFFECT PROTEIN FUNCTION<\font> | yes |
| T/I | 217 | TOLERATED | |
| M/T | 35 | TOLERATED | |
| R/M | 58 | AFFECT PROTEIN FUNCTION<\font> |
