Paralogue Annotation for RYR2 residue 4653

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4653
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4653

No paralogue variants have been mapped to residue 4653 for RYR2.



RYR2EDDIKGQWDRLVINTQSFPNNYWDKFVKRK>V<MDKYGEFYGRDRISELLGMDKAALDFSDAR4683
RYR1DDDVKGQWDRLVLNTPSFPSNYWDKFVKRK>V<LDKHGDIYGRERIAELLGMDLATLEITAHN4755
RYR3EDDIKGQWDRLVINTPSFPNNYWDKFVKRK>V<INKYGDLYGAERIAELLGLDKNALDFSPVE4588
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4653Fc.13957G>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001 103(4):485-90. 11157710
Inherited ArrhythmiaCPVT Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation. 2004 109(25):3208-14. 15197150
Inherited ArrhythmiaCPVT New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405
p.V4653Ic.13957G>A Putative BenignSIFT: deleterious
Polyphen: benign