No paralogue variants have been mapped to residue 1121 for RYR1.
RYR1 | FEAVTTGEMRVGWARPELRPDVELGADELA>Y<VFNGHRGQRWHLGSEPFGRPWQPGDVVGCM | 1151 |
RYR2 | FETVTAGDMRVGWSRPGCQPDQELGSDERA>F<AFDGFKAQRWHQGNEHYGRSWQAGDVVGCM | 1165 |
RYR3 | FEVVTGGDMRVGWARPGCRPDVELGADDQA>F<VFEGNRGQRWHQGSGYFGRTWQPGDVVGCM | 1151 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1121C | c.3362A>G | 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 |