No paralogue variants have been mapped to residue 2132 for RYR1.
RYR1 | VVRWAQEDFVQSPELVRAMFSLLHRQYDGL>G<ELLRALPRAYTISPSSVEDTMSLLECLGQI | 2162 |
RYR2 | MVRWAQESVIEDPELVRAMFVLLHRQYDGI>G<GLVRALPKTYTINGVSVEDTINLLASLGQI | 2126 |
RYR3 | MICWAQEDQIQDSELVRMMFNLLRRQYDSI>G<ELLQALRKTYTISHTSVSDTINLLAALGQI | 2024 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2132S | c.6394G>A | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord. 2013 23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. 23628358 | |||
Other Disease Phenotype | RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145 |