No paralogue variants have been mapped to residue 400 for RYR2.
RYR2 | LWLTYQSVDVKSVRMGSIQRKAIMHHEGHM>D<DGISLSRSQHEESRTARVIRSTVFLFNRFI | 430 |
RYR1 | LWLTYAAPDPKALRLGVLKKKAMLHQEGHM>D<DALSLTRCQQEESQAARMIHSTNGLYNQFI | 414 |
RYR3 | LWVTYKAQDAKTSRLGPLKRKVILHQEGHM>D<DGLTLQRCQREESQAARIIRNTTALFSQFV | 422 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D400H | c.1198G>C | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | LQTS | Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073 | ||
Inherited Arrhythmia | LQTS | 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 |