No paralogue variants have been mapped to residue 414 for RYR2.
RYR2 | MGSIQRKAIMHHEGHMDDGISLSRSQHEES>R<TARVIRSTVFLFNRFIRGLDALSKKAKA-- | 442 |
RYR1 | LGVLKKKAMLHQEGHMDDALSLTRCQQEES>Q<AARMIHSTNGLYNQFIKSLDSFSGKPRGSG | 428 |
RYR3 | LGPLKRKVILHQEGHMDDGLTLQRCQREES>Q<AARIIRNTTALFSQFVSGN-----NRTA-- | 429 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R414C | c.1240C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | 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 Arrhythmia | CPVT | Pathogenesis of unexplained drowning: new insights from a molecular autopsy. Mayo Clin Proc. 2005 80(5):596-600. 15887426 | |||
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 | |||
p.R414L | c.1241G>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | ||
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 | 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.R414H | c.1241G>A | Putative Benign | rs371121679 | SIFT: tolerated Polyphen: benign |