No paralogue variants have been mapped to residue 1673 for RYR1.
RYR1 | ENRCMDILELSERLDLQRFHSHTLRLYRAV>C<ALGNNRVAHALCSHVDQAQLLHALEDAHLP | 1703 |
RYR2 | ENRSVDILELTEQEELLKFHYHTLRLYSAV>C<ALGNHRVAHALCSHVDEPQLLYAIENKYMP | 1695 |
RYR3 | ENRCVDILELCEQEDLMRFHYHTLRLYSAV>C<ALGNSRVAYALCSHVDLSQLFYAIDNKYLP | 1599 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1673R | c.5017T>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484 |