No paralogue variants have been mapped to residue 574 for RYR1.
RYR1 | DWLVSKLDRLEASSGILEVLYCVLIESPEV>L<NIIQENHIKSIISLLDKHGRNHKVLDVLCS | 604 |
RYR2 | DWLISRLERLEASSGILEVLHCVLVESPEA>L<NIIKEGHIKSIISLLDKHGRNHKVLDVLCS | 616 |
RYR3 | DWLISKLDRLESSSGILEVLHCILTESPEA>L<NLIAEGHIKSIISLLDKHGRNHKVLDILCS | 603 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L574V | c.1720C>G | 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 |