Paralogue Annotation for RYR2 residue 2402

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2402
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2402

No paralogue variants have been mapped to residue 2402 for RYR2.



RYR2LDTEEEEDDTIHMGNAIMTFYSALIDLLGR>C<APEMHLIHAGKGEAIRIRSILRSLIPLGDL2432
RYR1FGEEPPEENRVHLGHAIMSFYAALIDLLGR>C<APEMHLIQAGKGEALRIRAILRSLVPLEDL2466
RYR3TGDDEEEEEIVHMGNAIMSFYSALIDLLGR>C<APEMHLIQTGKGEAIRIRSILRSLVPTEDL2329
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C2402Yc.7205G>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably 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