No paralogue variants have been mapped to residue 3654 for RYR2.
RYR2 | EKSWIETEEHYFEDKLIEDLAKPG-AEPPE>E<DEGTKRVDPLHQLILLFSRTALTEKCKLEE | 3684 |
RYR1 | KAAWILTEDHSFEDRMIDDLSKAGEQEEEE>E<EVEEKKPDPLHQLVLHFSRTALTEKSKLDE | 3718 |
RYR3 | QRFWIETEEYSFEEKLVQDLAKSPKVEEEE>E<EETEKQPDPLHQIILYFSRNALTERSKLED | 3573 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3654D | c.10962A>C | Putative Benign | SIFT: tolerated Polyphen: benign |