No paralogue variants have been mapped to residue 756 for RYR2.
RYR2 | GFDGLHLWSGCIARTVSSPNQHLLRTDDVI>S<CCLDLSAPSISFRINGQPVQGMFENFNIDG | 786 |
RYR1 | GFDGLHLWTGHVARPVTSPGQHLLAPEDVI>S<CCLDLSVPSISFRINGCPVQGVFESFNLDG | 774 |
RYR3 | GFDGLHLWSGRIPRAVASINQHLLRSDDVV>S<CCLDLGVPSISFRINGQPVQGMFENFNTDG | 773 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S756N | c.2267G>A | Putative Benign | rs193922623 | 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 |