No paralogue variants have been mapped to residue 1513 for RYR1.
RYR1 | HSSLKCSNCYMVWGGDFVSPGQQGRISHTD>L<VIGCLVDLATGLMTFTANGKESNTFFQVEP | 1543 |
RYR2 | HESIKRSNCYMVCAGESMSPGQ-G-RNNNG>L<EIGCVVDAASGLLTFIANGKELSTYYQVEP | 1535 |
RYR3 | HESVKRSNCYMVWGGDIVASSQRSNRSNVD>L<EIGCLVDLAMGMLSFSANGKELGTCYQVEP | 1439 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1513P | c.4538T>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240 |