No paralogue variants have been mapped to residue 4552 for RYR2.
RYR2 | -----LPTRSSSENAK-VTSLDS-----SS>H<RIIAVHYVLEESSGYMEPTLRILAILHTVI | 4582 |
RYR1 | GSAAGDVSGAGSGGSSGW-GLGAGEEAEGD>E<DENMVYYFLEESTGYMEPALRCLSLLHTLV | 4654 |
RYR3 | -----DVANLWN-------SFND-----EE>E<EEAMVFFVLQESTGYMAPTLRALAIIHTII | 4487 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H4552R | c.13655A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series. Pediatr Cardiol. 2015 36(4):768-78. doi: 10.1007/s00246-014-1082-4. 25500949 |