No paralogue variants have been mapped to residue 4558 for RYR2.
RYR2 | PTRSSSENAK-VTSLDS-----SSHRIIAV>H<YVLEESSGYMEPTLRILAILHTVISFFCII | 4588 |
RYR1 | VSGAGSGGSSGW-GLGAGEEAEGDEDENMV>Y<YFLEESTGYMEPALRCLSLLHTLVAFLCII | 4660 |
RYR3 | VANLWN-------SFND-----EEEEEAMV>F<FVLQESTGYMAPTLRALAIIHTIISLVCVV | 4493 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H4558Y | c.13672C>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. Crit Care Med. 2012 40(7):2223-6. doi: 10.1097/CCM.0b013e318250a870. 22584762 |