No paralogue variants have been mapped to residue 4603 for RYR1.
RYR1 | AINFILLFYKVSDSPPGEDDMEGSAAGDVS>G<AGSGGSSGW-GLGAGEEAEGDEDENMVYYF | 4632 |
RYR2 | AINFILLFYKVSTSSVVEGKE------LPT>R<SSSENAK-VTSLDS-----SSHRIIAVHYV | 4560 |
RYR3 | AINFILLFYKVTEEPLEEETE------DVA>N<LWN-------SFND-----EEEEEAMVFFV | 4465 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4603R | c.13807G>C | Putative Benign | rs373231458 | SIFT: tolerated Polyphen: | |
p.G4603D | c.13808G>A | Putative Benign | SIFT: Polyphen: |