Paralogue Annotation for RYR2 residue 2628

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2628
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2628

No paralogue variants have been mapped to residue 2628 for RYR2.



RYR2LLNEHAKMPLKLLTNHYERCWKYYCLPGGW>G<NFGAASEEELHLSRKLFWGIFDALSQKKYE2658
RYR1ILNEFAKMPLKLLTNHYERCWKYYCLPTGW>A<NFGVTSEEELHLTRKLFWGIFDSLAHKKYD2692
RYR3QLNEYCKMPLKLLTNHYEQCWKYYCLPSGW>G<SYGLAVEEELHLTEKLFWGIFDSLSHKKYD2555
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2628Ec.7883G>A 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