Paralogue Annotation for RYR2 residue 2498

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2498
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2498

No paralogue variants have been mapped to residue 2498 for RYR2.



RYR2MVLFLDRVYGIEVQDFLLHLLEVGFLPDLR>A<AASLDTAALSATDMALALNRYLCTAVLPLL2528
RYR1MVLFLDRVYGIENQDFLLHVLDVGFLPDMR>A<AASLDTATFSTTEMALALNRYLCLAVLPLI2562
RYR3MVLFLDRVYGIKDQTFLLHLLEVGFLPDLR>A<SASLDTVSLSTTEAALALNRYICSAVLPLL2425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2498Vc.7493C>T 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
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.A2498Tc.7492G>A Putative BenignSIFT:
Polyphen: