| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | R2401H | Ventricular tachycardia, polymorphic | High | 9 | 15749201, 24025405, 24136861, 20851825 |
| RYR2 | R2401L | Ventricular tachycardia, polymorphic | High | 9 | 16436635, 24025405 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.
| RYR1 | HFGEEPPEENRVHLGHAIMSFYAALIDLLG>R<CAPEMHLIQAGKGEALRIRAILRSLVPLED | 2465 |
| RYR2 | TLDTEEEEDDTIHMGNAIMTFYSALIDLLG>R<CAPEMHLIHAGKGEAIRIRSILRSLIPLGD | 2431 |
| RYR3 | STGDDEEEEEIVHMGNAIMSFYSALIDLLG>R<CAPEMHLIQTGKGEAIRIRSILRSLVPTED | 2328 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2435H | c.7304G>A | Other Myopathy | rs28933396 | SIFT: Polyphen: | |
| Reports | Other Myopathy | A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 5(1):46-50. 8220422 | |||
| Other Myopathy | Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J Gen Physiol. 2001 118(3):277-90. 11524458 | ||||
| Other Myopathy | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||
| Other Myopathy | Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8. 21965348 | ||||
| Other Myopathy | Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9. 9334205 | ||||
| Other Myopathy | Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702. 9873004 | ||||
| Unknown | The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996 34(1):24-41. 8661021 | ||||
| Other Myopathy | Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. Anesth Analg. 2014 118(2):381-7. doi: 10.1213/ANE.0b013e3182937d8b. 23842196 | ||||
| p.R2435L | c.7304G>T | Other Myopathy | rs28933396 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet. 1999 36(2):115-8. 10051009 | |||
| Other Myopathy | A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium. 2009 45(2):192-7. doi: 10.1016/j.ceca.2008.10.001. 19027160 | ||||
| Other Myopathy | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838 | ||||