Mapping mutations of ARS A
From Bioinformatikpedia
HGMD
dbSNP
The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are more than selecting the SNPO over the GeneView interface... We chose the gene sequence within GeneView such that it matched the sequence version, that we used so far.
| SNP ID | SNP type | nucleotide (mutation) | amino acid (mutation) | nucleotide (reference) | amino acid (reference) | position |
|---|---|---|---|---|---|---|
| rs6151428 | missense | A | His [H] | G | Arg [R] | 496 |
| rs117341984 | missense | A | Arg [R] | G | Gly [G] | 447 |
| rs6151427 | missense | G | Ser [S] | A | Asn [N] | 440 |
| rs6151425 | synonymous | T | Asp [D] | C | Asp [D] | 381 |
| rs6151422 | missense | G | Val [V] | T | Phe [F] | 356 |
| rs113990230 | synonymous | C | His [H] | T | His [H] | 206 |
| rs62001867 | missense | A | Thr [T] | G | Ala [A] | 205 |
| rs34457249 | synonymous | T | Pro [P] | C | Pro [P] | 195 |
| rs6151415 | missense | T | Cys [C] | G | Trp [W] | 193 |
| rs113209108 | synonymous | T | Ser [S] | C | Ser [S] | 186 |
| rs6151412 | synonymous | T | His [H] | C | His [H] | 151 |
| rs60504011 | missense | G | Ala [A] | C | Pro [P] | 136 |
| rs6151411 | missense | G | Leu [L] | C | Pro [P] | 82 |
| rs6151410 | missense | T | Gly [G] | C | Gly [G] | 79 |
