No paralogue variants have been mapped to residue 2657 for RYR2.
RYR2 | WGNFGAASEEELHLSRKLFWGIFDALSQKK>Y<EQELFKLALPCLSAVAGALPPDYMESNYVS | 2687 |
RYR1 | WANFGVTSEEELHLTRKLFWGIFDSLAHKK>Y<DPELYRMAMPCLCAIAGALPPDYVDASYSS | 2721 |
RYR3 | WGSYGLAVEEELHLTEKLFWGIFDSLSHKK>Y<DPDLFRMALPCLSAIAGALPPDYLDTRITA | 2584 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2657D | c.7969T>G | Putative Benign | rs376527336 | SIFT: deleterious Polyphen: probably damaging |