No paralogue variants have been mapped to residue 4158 for RYR2.
RYR2 | YFQPFLGRIEIMGSAKRIERVYFEISESSR>T<QWEKPQVKESKRQFIFDVVNEGGEKEKMEL | 4188 |
RYR1 | YFRPYLGRIEIMGASRRIERIYFEISETNR>A<QWEMPQVKESKRQFIFDVVNEGGEAEKMEL | 4232 |
RYR3 | YFEPYLGRIEIMGGAKKIERVYFEISESSR>T<QWEKPQVKESKRQFIFDVVNEGGEQEKMEL | 4084 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4158P | c.12472A>C | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004 79(11):1380-4. 15544015 | ||
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 | |||
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 |