No paralogue variants have been mapped to residue 2129 for RYR1.
| RYR1 | SHMVVRWAQEDFVQSPELVRAMFSLLHRQY>D<GLGELLRALPRAYTISPSSVEDTMSLLECL | 2159 |
| RYR2 | SETMVRWAQESVIEDPELVRAMFVLLHRQY>D<GIGGLVRALPKTYTINGVSVEDTINLLASL | 2123 |
| RYR3 | SQTMICWAQEDQIQDSELVRMMFNLLRRQY>D<SIGELLQALRKTYTISHTSVSDTINLLAAL | 2021 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D2129E | c.6387C>G | Other Myopathy | rs117886618 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia. Hum Mutat. 2001 17(3):238. 11241852 | |||
| p.D2129N | c.6385G>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 | ||||