No paralogue variants have been mapped to residue 3913 for RYR1.
RYR1 | LFRFLQLLCEGHNNDFQNYLRTQTGNTTTI>N<IIICTVDYLLRLQESISDFYWYYSGKDVIE | 3943 |
RYR2 | LFRFLQLLCEGHNSDFQNYLRTQTGNNTTV>N<IIISTVDYLLRVQESISDFYWYYSGKDVID | 3899 |
RYR3 | LFRFLQLLCEGHNSDFQNFLRTQMGNTTTV>N<VIISTVDYLLRLQESISDFYWYYSGKDIID | 3795 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N3913D | c.11737A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551 |