Paralogue Annotation for RYR2 residue 2337

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2337
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2337

No paralogue variants have been mapped to residue 2337 for RYR2.



RYR2FCNGESVEENANVVVRLLIRRPECFGPALR>G<EGGNGLLAAMEEAIKIAEDPSRDGPSPNS-2366
RYR1FVNGESVEENANVVVRLLIRKPECFGPALR>G<EGGSGLLAAIEEAIRISEDPARDGPGIRRD2400
RYR3FVNSESVEENASVVVKLLIRRPECFGPALR>G<EGGNGLLAAMQGAIKISENPALDLPSQGY-2263
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2337Vc.7010G>T Inherited ArrhythmiaCPVTSIFT:
Polyphen:
ReportsInherited ArrhythmiaCPVT High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening. Europace. 2010 12(3):417-23. doi: 10.1093/europace/eup448. 20106799
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