No paralogue variants have been mapped to residue 4534 for RYR2.
RYR2 | AFAINFILLFYKVSTSSVVEGKE------L>P<TRSSSENAK-VTSLDS-----SSHRIIAVH | 4558 |
RYR1 | AFAINFILLFYKVSDSPPGEDDMEGSAAGD>V<SGAGSGGSSGW-GLGAGEEAEGDEDENMVY | 4630 |
RYR3 | AFAINFILLFYKVTEEPLEEETE------D>V<ANLWN-------SFND-----EEEEEAMVF | 4463 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4534S | c.13600C>T | Putative Benign | rs199624074 | SIFT: tolerated Polyphen: benign | |
p.P4534L | c.13601C>T | Putative Benign | SIFT: Polyphen: |