No paralogue variants have been mapped to residue 4608 for RYR2.
RYR2 | LHTVISFFCIIGYYCLKVPLVIFKREKEVA>R<KLEFDGLYITEQPSEDDIKGQWDRLVINTQ | 4638 |
RYR1 | LHTLVAFLCIIGYNCLKVPLVIFKREKELA>R<KLEFDGLYITEQPEDDDVKGQWDRLVLNTP | 4710 |
RYR3 | IHTIISLVCVVGYYCLKVPLVVFKREKEIA>R<KLEFDGLYITEQPSEDDIKGQWDRLVINTP | 4543 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4608W | c.13822C>T | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||
p.R4608Q | c.13823G>A | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. Circ Arrhythm Electrophysiol. 2014 7(5):800-6. doi: 10.1161/CIRCEP.114.001818. 25194972 |