No paralogue variants have been mapped to residue 4590 for RYR1.
RYR1 | FYTLRFLALFLAFAINFILLFYKVSDSPPG>E<DDMEGSAAGDVSGAGSGGSSGW-GLGAGEE | 4619 |
RYR2 | FYNMRMLALFVAFAINFILLFYKVSTSSVV>E<GKE------LPTRSSSENAK-VTSLDS--- | 4549 |
RYR3 | FYNLRFLALFVAFAINFILLFYKVTEEPLE>E<ETE------DVANLWN-------SFND--- | 4454 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4590K | c.13768G>A | Putative Benign | SIFT: Polyphen: |