No paralogue variants have been mapped to residue 763 for RYR1.
RYR1 | GQHLLAPEDVISCCLDLSVPSISFRINGCP>V<QGVFESFNLDGLFFPVVSFSAGVKVRFLLG | 793 |
RYR2 | NQHLLRTDDVISCCLDLSAPSISFRINGQP>V<QGMFENFNIDGLFFPVVSFSAGIKVRFLLG | 805 |
RYR3 | NQHLLRSDDVVSCCLDLGVPSISFRINGQP>V<QGMFENFNTDGLFFPVMSFSAGVKVRFLMG | 792 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V763L | c.2287G>T | Putative Benign | rs369947687 | SIFT: deleterious Polyphen: probably damaging | |
p.V763M | c.2287G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015 52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. 25635128 |