No paralogue variants have been mapped to residue 40 for RYR1.
RYR1 | VQFLRTDDEVVLQCSATVLKEQLKLCLAAE>G<FGNRLCFLEPTSNAQNVPPDLAICCFVLEQ | 70 |
RYR2 | IQFLRTDDEVVLQCTATIHKEQQKLCLAAE>G<FGNRLCFLESTSNSKNVPPDLSICTFVLEQ | 71 |
RYR3 | IQFLRTEDEVVLQCIATIHKEQRKFCLAAE>G<LGNRLCFLEPTSEAKYIPPDLCVCNFVLEQ | 72 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G40V | c.119G>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2009 19(5):344-7. 19303294 |