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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	G2400V	Catecholaminergic polymorphic ventricular tachycar	High	9	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.

RYR1	EHFGEEPPEENRVHLGHAIMSFYAALIDLL>G<RCAPEMHLIQAGKGEALRIRAILRSLVPLE	2464
RYR2	KTLDTEEEEDDTIHMGNAIMTFYSALIDLL>G<RCAPEMHLIHAGKGEAIRIRSILRSLIPLG	2430
RYR3	VSTGDDEEEEEIVHMGNAIMSFYSALIDLL>G<RCAPEMHLIQTGKGEAIRIRSILRSLVPTE	2327
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2434R	c.7300G>A	Other Myopathy		rs121918593	SIFT: Polyphen:
Reports		Other 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