Paralogue Annotation for RYR2 residue 413

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 413
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 413

No paralogue variants have been mapped to residue 413 for RYR2.



RYR2RMGSIQRKAIMHHEGHMDDGISLSRSQHEE>S<RTARVIRSTVFLFNRFIRGLDALSKKAKA-442
RYR1RLGVLKKKAMLHQEGHMDDALSLTRCQQEE>S<QAARMIHSTNGLYNQFIKSLDSFSGKPRGS427
RYR3RLGPLKRKVILHQEGHMDDGLTLQRCQREE>S<QAARIIRNTTALFSQFVSGN-----NRTA-429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S413Tc.1237T>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665
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.S413Pc.1237T>C Putative BenignSIFT:
Polyphen:
p.Ser413Leuc.1238C>T UnknownSIFT:
Polyphen: