Paralogue Annotation for RYR2 residue 420

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 420
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 420

No paralogue variants have been mapped to residue 420 for RYR2.



RYR2KAIMHHEGHMDDGISLSRSQHEESRTARVI>R<STVFLFNRFIRGLDALSKKAKA----STVD446
RYR1KAMLHQEGHMDDALSLTRCQQEESQAARMI>H<STNGLYNQFIKSLDSFSGKPRGSGPPAGTA434
RYR3KVILHQEGHMDDGLTLQRCQREESQAARII>R<NTTALFSQFVSGN-----NRTA----APIT433
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R420Qc.1259G>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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 The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. Structure. 2013 21(8):1440-9. doi: 10.1016/j.str.2013.06.012. 23871484
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
Inherited ArrhythmiaCPVT Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia. Rev Esp Cardiol (Engl Ed). 2015 68(5):398-407. doi: 10.1016/j.rec.2014.04.023. 25440180
Inherited ArrhythmiaCPVT Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia. Rev Esp Cardiol (Engl Ed). 2015 68(5):398-407. doi: 10.1016/j.rec.2014.04.023. 25440180
p.R420Wc.1258C>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol. 2002 40(2):341-9. 12106942
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 Mortality of inherited arrhythmia syndromes: insight into their natural history. Circ Cardiovasc Genet. 2012 5(2):183-9. 22373669
Inherited ArrhythmiaCPVT Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res. 2012 110(7):968-77. 22374134
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
Inherited ArrhythmiaCPVT A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes. Biochem Biophys Res Commun. 2014 452(3):665-8. doi: 10.1016/j.bbrc.2014.08.132. 25193700
Other Cardiac Phenotype Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Circ Cardiovasc Genet. 2016 9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. 27114410
Other Cardiac Phenotype Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594