No paralogue variants have been mapped to residue 4510 for RYR2.
RYR2 | FWKKIIAYQQKLLNYFARNFYNMRMLALFV>A<FAINFILLFYKVSTSSVVEGKE------LP | 4534 |
RYR1 | FWGELEVQRVKFLNYLSRNFYTLRFLALFL>A<FAINFILLFYKVSDSPPGEDDMEGSAAGDV | 4601 |
RYR3 | FFKGLEIYQTKLLHYLARNFYNLRFLALFV>A<FAINFILLFYKVTEEPLEEETE------DV | 4445 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4510T | c.13528G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably 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.Ala4510Ser | c.13528G>T | Unknown | SIFT: Polyphen: |