Paralogue Annotation for RYR2 residue 3876

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3876
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3876

No paralogue variants have been mapped to residue 3876 for RYR2.

RYR2	LCEGHNSDFQNYLRTQTGNNTTVNIIISTV>D<YLLRVQESISDFYWYYSGKDVIDEQGQRNF	3906
RYR1	LCEGHNNDFQNYLRTQTGNTTTINIIICTV>D<YLLRLQESISDFYWYYSGKDVIEEQGKRNF	3950
RYR3	LCEGHNSDFQNFLRTQMGNTTTVNVIISTV>D<YLLRLQESISDFYWYYSGKDIIDESGQHNF	3802
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3876E	c.11628C>G	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