Difference between revisions of "Sequence-based mutation analysis"
From Bioinformatikpedia
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| Q/H || 127 || HGMD/dbSNP |
| Q/H || 127 || HGMD/dbSNP |
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+ | | C/Y,S || 282 || HGMD/dbSNP |
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| R/M || 330 || HGMD |
| R/M || 330 || HGMD |
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Revision as of 14:38, 24 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.
| 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 |
