No paralogue variants have been mapped to residue 407 for RYR2.
RYR2 | VDVKSVRMGSIQRKAIMHHEGHMDDGISLS>R<SQHEESRTARVIRSTVFLFNRFIRGLDALS | 437 |
RYR1 | PDPKALRLGVLKKKAMLHQEGHMDDALSLT>R<CQQEESQAARMIHSTNGLYNQFIKSLDSFS | 421 |
RYR3 | QDAKTSRLGPLKRKVILHQEGHMDDGLTLQ>R<CQREESQAARIIRNTTALFSQFVSGN---- | 425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R407I | c.1220G>T | 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 | |||
p.R407S | c.1221A>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |