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.



RYR2LCEGHNSDFQNYLRTQTGNNTTVNIIISTV>D<YLLRVQESISDFYWYYSGKDVIDEQGQRNF3906
RYR1LCEGHNNDFQNYLRTQTGNTTTINIIICTV>D<YLLRLQESISDFYWYYSGKDVIEEQGKRNF3950
RYR3LCEGHNSDFQNFLRTQMGNTTTVNVIISTV>D<YLLRLQESISDFYWYYSGKDIIDESGQHNF3802
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D3876Ec.11628C>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086