No paralogue variants have been mapped to residue 4589 for RYR1.
RYR1 | NFYTLRFLALFLAFAINFILLFYKVSDSPP>G<EDDMEGSAAGDVSGAGSGGSSGW-GLGAGE | 4618 |
RYR2 | NFYNMRMLALFVAFAINFILLFYKVSTSSV>V<EGKE------LPTRSSSENAK-VTSLDS-- | 4549 |
RYR3 | NFYNLRFLALFVAFAINFILLFYKVTEEPL>E<EETE------DVANLWN-------SFND-- | 4454 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4589E | c.13766G>A | Putative Benign | SIFT: tolerated Polyphen: |