No paralogue variants have been mapped to residue 1489 for RYR2.
RYR2 | LDRVRTVTVTLGDEKGKVHESIKRSNCYMV>C<AGESMSPGQ-G-RNNNGLEIGCVVDAASGL | 1517 |
RYR1 | LSKVRVVTVTMGDEQGNVHSSLKCSNCYMV>W<GGDFVSPGQQGRISHTDLVIGCLVDLATGL | 1525 |
RYR3 | LNKNCTVTVTLGDERGRVHESVKRSNCYMV>W<GGDIVASSQRSNRSNVDLEIGCLVDLAMGM | 1421 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1489R | c.4465T>C | Other Cardiac Phenotype | rs200450676 | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
Other Cardiac Phenotype | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 79(4):522-34. doi: 10.1002/ana.24596. 26704558 |