Paralogue Annotation for RYR2 residue 414

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 414
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 414

No paralogue variants have been mapped to residue 414 for RYR2.



RYR2MGSIQRKAIMHHEGHMDDGISLSRSQHEES>R<TARVIRSTVFLFNRFIRGLDALSKKAKA--442
RYR1LGVLKKKAMLHQEGHMDDALSLTRCQQEES>Q<AARMIHSTNGLYNQFIKSLDSFSGKPRGSG428
RYR3LGPLKRKVILHQEGHMDDGLTLQRCQREES>Q<AARIIRNTTALFSQFVSGN-----NRTA--429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R414Cc.1240C>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy. J Mol Diagn. 2006 8(1):62-7. 16436635
Inherited ArrhythmiaCPVT Pathogenesis of unexplained drowning: new insights from a molecular autopsy. Mayo Clin Proc. 2005 80(5):596-600. 15887426
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.R414Lc.1241G>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642
Inherited ArrhythmiaCPVT The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015
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.R414Hc.1241G>A Putative BenignSIFT: tolerated
Polyphen: benign