No paralogue variants have been mapped to residue 420 for RYR2.
RYR2 | KAIMHHEGHMDDGISLSRSQHEESRTARVI>R<STVFLFNRFIRGLDALSKKAKA----STVD | 446 |
RYR1 | KAMLHQEGHMDDALSLTRCQQEESQAARMI>H<STNGLYNQFIKSLDSFSGKPRGSGPPAGTA | 434 |
RYR3 | KVILHQEGHMDDGLTLQRCQREESQAARII>R<NTTALFSQFVSGN-----NRTA----APIT | 433 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R420Q | c.1259G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | 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 Arrhythmia | CPVT | 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 Arrhythmia | CPVT | 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 Arrhythmia | CPVT | 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 Arrhythmia | CPVT | 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.R420W | c.1258C>T | Inherited Arrhythmia | CPVT | rs190140598 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT | 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 Arrhythmia | CPVT | 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 Arrhythmia | CPVT | Mortality of inherited arrhythmia syndromes: insight into their natural history. Circ Cardiovasc Genet. 2012 5(2):183-9. 22373669 | |||
Inherited Arrhythmia | CPVT | Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res. 2012 110(7):968-77. 22374134 | |||
Inherited Arrhythmia | CPVT | 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 Arrhythmia | CPVT | 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 |