No paralogue variants have been mapped to residue 2274 for RYR1.
RYR1 | QRSMFDHLSYLLENSGIG--L-GMQGSTPL>D<VAAASVIDNNELALALQEQDLEKVVSYLAG | 2304 |
RYR2 | QKAMFDHLSYLLENSSVGLASPAMRGSTPL>D<VAAASVMDNNELALALREPDLEKVVRYLAG | 2271 |
RYR3 | QKAMFEHLSYLLENSSVGLASPSMRGSTPL>D<VAASSVMDNNELALSLEEPDLEKVVTYLAG | 2168 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2274Y | c.6820G>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145 |