No paralogue variants have been mapped to residue 702 for RYR2.
RYR2 | KWYYELMVDHTEPFVTAEATHLRVGWASTE>G<YSPYPGGGEEWGGNGVGDDLFSYGFDGLHL | 732 |
RYR1 | KWYFEVMVDEVTPFLTAQATHLRVGWALTE>G<YTPYPGAGEGWGGNGVGDDLYSYGFDGLHL | 720 |
RYR3 | KWYFELIIDQVDPFLTAEPTHLRVGWASSS>G<YAPYPGGGEGWGGNGVGDDLYSYGFDGLHL | 719 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G702R | c.2104G>A | Putative Benign | SIFT: deleterious Polyphen: probably 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 |