No paralogue variants have been mapped to residue 2458 for RYR1.
| RYR1 | ALIDLLGRCAPEMHLIQAGKGEALRIRAIL>R<SLVPLEDLVGIISLPLQIPTLGKDGALVQP | 2488 |
| RYR2 | ALIDLLGRCAPEMHLIHAGKGEAIRIRSIL>R<SLIPLGDLVGVISIAFQMPTIAKDGNVVEP | 2454 |
| RYR3 | ALIDLLGRCAPEMHLIQTGKGEAIRIRSIL>R<SLVPTEDLVGIISIPLKLPSLNKDGSVSEP | 2351 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2458C | c.7372C>T | Other Myopathy | rs28933397 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Hum Mutat. 1998 11(1):45-50. 9450902 | |||
| Other Myopathy | Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat. 2001 18(4):357-8. 11668625 | ||||
| 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 | ||||
| p.R2458H | c.7373G>A | Other Myopathy | rs121918594 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Hum Mutat. 1998 11(1):45-50. 9450902 | |||
| 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 | Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003 278(28):25722-30. 12732639 | ||||
| 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 | ||||
| Other Disease Phenotype | Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 23(9):2279-89. doi: 10.1093/hmg/ddt618. 24319099 | ||||
| Other Myopathy | Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families. Anesth Analg. 2012 114(5):1017-25. doi: 10.1213/ANE.0b013e31824a95ad. 22415532 | ||||
| p.R2458L | c.7373G>T | Other Myopathy | SIFT: Polyphen: | ||
| Reports | 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 | |||