Paralogue Annotation for RYR2 residue 3638

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3638
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3638

No paralogue variants have been mapped to residue 3638 for RYR2.



RYR2LYNLPRHRAVNLFLQGYEKSWIETEEHYFE>D<KLIEDLAKPG-AEPPEEDEGTKRVDPLHQL3667
RYR1LYNLPTHRACNMFLESYKAAWILTEDHSFE>D<RMIDDLSKAGEQEEEEEEVEEKKPDPLHQL3701
RYR3LYNLPRHRSINLFLHGYQRFWIETEEYSFE>E<KLVQDLAKSPKVEEEEEEETEKQPDPLHQI3556
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D3638Ac.10913A>C Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086