Paralogue Annotation for RYR2 residue 2400

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2400
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2400

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	G2434R	Malignant hyperthermia	High	9	7849712, 11668625, 19648156, 9334205, 9873004, 23842196

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 RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2400V	c.7199G>T	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	CPVT	Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086