No paralogue variants have been mapped to residue 789 for RYR1.
RYR1 | NGCPVQGVFESFNLDGLFFPVVSFSAGVKV>R<FLLGGRHGEFKFLPPPGYAPCHEAVLPRER | 819 |
RYR2 | NGQPVQGMFENFNIDGLFFPVVSFSAGIKV>R<FLLGGRHGEFKFLPPPGYAPCYEAVLPKEK | 831 |
RYR3 | NGQPVQGMFENFNTDGLFFPVMSFSAGVKV>R<FLMGGRHGEFKFLPPSGYAPCYEALLPKEK | 818 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R789L | c.2366G>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 | |||
p.R789Q | c.2366G>A | Putative Benign | rs200069592 | SIFT: Polyphen: probably damaging | |
p.R789W | c.2365C>T | Putative Benign | SIFT: Polyphen: |