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 | Physicochemical changes |
|---|---|---|---|
| S/C | 65 | HGMD/dbSNP | |
| I/T | 105 | HGMD/dbSNP | |
| Q/H | 127 | HGMD/dbSNP | |
| C/Y,S | 282 | HGMD/dbSNP | |
| R/M | 330 | HGMD | |
| A/V | 176 | HGMD | |
| R/S | 6 | HGMD | |
| T/I | 217 | dbSNP | |
| M/T | 35 | dbSNP | |
| R/M | 58 | dbSNP |
