No paralogue variants have been mapped to residue 1161 for RYR2.
RYR2 | DERAFAFDGFKAQRWHQGNEHYGRSWQAGD>V<VGCMVDMNEHTMMFTLNGEILLDDSGSELA | 1191 |
RYR1 | DELAYVFNGHRGQRWHLGSEPFGRPWQPGD>V<VGCMIDLTENTIIFTLNGEVLMSDSGSETA | 1177 |
RYR3 | DDQAFVFEGNRGQRWHQGSGYFGRTWQPGD>V<VGCMINLDDASMIFTLNGELLITNKGSELA | 1177 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1161L | c.3481G>C | Putative Benign | rs372761438 | 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 | |||
p.V1161F | c.3481G>T | Putative Benign | SIFT: Polyphen: |