Difference between revisions of "Mapping mutations of ARS A"
From Bioinformatikpedia
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=== dbSNP === |
=== dbSNP === |
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| − | The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are more than selecting the SNPO over the GeneView interface... |
+ | The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are more than selecting the SNPO over the GeneView interface... This is because there exist two isoforms of ARSA and we manually checked that a lot of the other mutations belonged to the other isoform (NP_001078897). We used the isoform, which we have used so far (NP_000478). |
We chose the gene sequence within GeneView such that it matched the sequence version, that we used so far. |
We chose the gene sequence within GeneView such that it matched the sequence version, that we used so far. |
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Revision as of 16:02, 15 June 2011
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... This is because there exist two isoforms of ARSA and we manually checked that a lot of the other mutations belonged to the other isoform (NP_001078897). We used the isoform, which we have used so far (NP_000478). 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 |
