No paralogue variants have been mapped to residue 1541 for RYR2.
RYR2 | VDAASGLLTFIANGKELSTYYQVEPSTKLF>P<AVFAQATSPNVFQFELGRIKNVMPLSAGLF | 1571 |
RYR1 | VDLATGLMTFTANGKESNTFFQVEPNTKLF>P<AVFVLPTHQNVIQFELGKQKNIMPLSAAMF | 1579 |
RYR3 | VDLAMGMLSFSANGKELGTCYQVEPNTKVF>P<AVFLQPTSTSLFQFELGKLKNAMPLSAAIF | 1475 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1541S | c.4621C>T | Putative Benign | SIFT: Polyphen: |