No paralogue variants have been mapped to residue 1175 for RYR1.
RYR1 | GDVVGCMIDLTENTIIFTLNGEVLMSDSGS>E<TAFREIEIGDGFLPVCSLGPGQVGHLNLGQ | 1205 |
RYR2 | GDVVGCMVDMNEHTMMFTLNGEILLDDSGS>E<LAFKDFDVGDGFIPVCSLGVAQVGRMNFGK | 1219 |
RYR3 | GDVVGCMINLDDASMIFTLNGELLITNKGS>E<LAFADYEIENGFVPICCLGLSQIGRMNLGT | 1205 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1175K | c.3523G>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 |