Paralogue Annotation for RYR1 residue 2434

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2434
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2434

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2G2400VCatecholaminergic polymorphic ventricular tachycarHigh9 23595086

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.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2434Rc.7300G>A Other MyopathySIFT:
ReportsOther Myopathy Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 3(10):1855-8. 7849712
Other Myopathy Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat. 2001 18(4):357-8. 11668625
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 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 Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Chem. 1997 272(8):5256-60. 9030597
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