No paralogue variants have been mapped to residue 4645 for RYR2.
RYR2 | LYITEQPSEDDIKGQWDRLVINTQSFPNNY>W<DKFVKRKVMDKYGEFYGRDRISELLGMDKA | 4675 |
RYR1 | LYITEQPEDDDVKGQWDRLVLNTPSFPSNY>W<DKFVKRKVLDKHGDIYGRERIAELLGMDLA | 4747 |
RYR3 | LYITEQPSEDDIKGQWDRLVINTPSFPNNY>W<DKFVKRKVINKYGDLYGAERIAELLGLDKN | 4580 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W4645R | c.13933T>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Genetic characterization of familial CPVT after 30 years. Biol Res Nurs. 2009 11(1):66-72. 19398417 | ||
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 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
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 |