No paralogue variants have been mapped to residue 769 for RYR2.
RYR2 | RTVSSPNQHLLRTDDVISCCLDLSAPSISF>R<INGQPVQGMFENFNIDGLFFPVVSFSAGIK | 799 |
RYR1 | RPVTSPGQHLLAPEDVISCCLDLSVPSISF>R<INGCPVQGVFESFNLDGLFFPVVSFSAGVK | 787 |
RYR3 | RAVASINQHLLRSDDVVSCCLDLGVPSISF>R<INGQPVQGMFENFNTDGLFFPVMSFSAGVK | 786 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R769Q | c.2306G>A | Putative Benign | SIFT: Polyphen: | ||
p.R769G | c.2305C>G | Unknown | SIFT: Polyphen: | ||
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.Arg769Leu | c.2306G>T | Unknown | SIFT: Polyphen: |