No paralogue variants have been mapped to residue 2452 for RYR1.
| RYR1 | IMSFYAALIDLLGRCAPEMHLIQAGKGEAL>R<IRAILRSLVPLEDLVGIISLPLQIPTLGKD | 2482 |
| RYR2 | IMTFYSALIDLLGRCAPEMHLIHAGKGEAI>R<IRSILRSLIPLGDLVGVISIAFQMPTIAKD | 2448 |
| RYR3 | IMSFYSALIDLLGRCAPEMHLIQTGKGEAI>R<IRSILRSLVPTEDLVGIISIPLKLPSLNKD | 2345 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2452Q | c.7355G>A | Other Myopathy | rs193922815 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
| p.R2452P | c.7355G>C | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333 | |||
| p.R2452W | c.7354C>T | Other Myopathy | rs118192124 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Malignant hyperthermia in infancy and identification of novel RYR1 mutation. Br J Anaesth. 2000 84(4):500-4. 10823104 | |||
| Other Myopathy | A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. J Clin Neurosci. 2012 19(1):65-70. doi: 10.1016/j.jocn.2011.05.010. 22030266 | ||||
| Other Myopathy | Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. 23394784 | ||||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
| Other Myopathy | Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. Cell Calcium. 2014 56(3):195-201. doi: 10.1016/j.ceca.2014.07.004. 25086907 | ||||