Mapping SNPs HEXA
From Bioinformatikpedia
Comparison of mutations in HGMD and SNP-DB
- Mutations annotated in both databases:
| Position | Amino Acids | Codons |
| 26 | Trp -> Ter | TGGc -> TGA |
| 39 | Leu -> Arg | CTT -> CGT |
| 127 | Leu -> Phe | aCTC -> TTC |
| 127 | Leu -> Arg | CTC -> CGC |
| 137 | Arg -> Ter | cCGA -> TGA |
| 170 | Arg -> Trp | cCGG -> TGG |
| 170 | Arg -> Gln | CGG -> CAG |
| 178 | Arg -> His | CGC -> CAC |
| 178 | Arg -> Leu | CGC -> CTC |
| 178 | Arg -> Cys | tCGC -> TGC |
| 180 | Tyr -> Ter | TACc -> TAG |
| 180 | Tyr -> His | tTAC -> CAC |
| 197 | Lys -> Thr | AAA -> ACA |
| 200 | Val -> Met | cGTG -> ATG |
| 204 | His -> Arg | CAT -> CGT |
| 210 | Ser -> Phe | TCC -> TTC |
| 211 | Phe -> Ser | TTC -> TCC |
| 247 | Arg -> Trp | aCGG -> TGG |
| 250 | Gly -> Ser | gGGT -> AGT |
| 250 | Gly -> Asp | GGT -> GAT |
| 250 | Gly -> Val | GGT -> GTT |
| 258 | Asp -> His | tGAC -> CAC |
| 269 | Gly -> Ser | aGGT -> AGT |
| 269 | Gly -> Asp | GGT -> GAT |
| 301 | Met -> Arg | ATG -> AGG |
| 329 | Trp -> Ter | TGG -> TAG |
| 393 | Arg -> Ter | gCGA -> TGA |
| 420 | Trp -> Cys | TGGt -> TGC |
| 420 | Trp -> Cys | TGGt -> TGT |
| 451 | Leu -> Val | tCTG -> GTG |
| 454 | Gly -> Asp | GGT -> GAT |
| 454 | Gly -> Ser | tGGT -> AGT |
| 474 | Trp -> Cys | TGGc -> TGC |
| 482 | Glu -> Lys | cGAA -> AAA |
| 485 | Trp -> Arg | gTGG -> CGG |
| 499 | Arg -> Cys | aCGT -> TGT |
| 499 | Arg -> His | CGT -> CAT |
| 504 | Arg -> Cys | cCGC -> TGC |
| 504 | Arg -> His | CGC -> CAC |
