No paralogue variants have been mapped to residue 735 for RYR1.
RYR1 | GVGDDLYSYGFDGLHLWTGHVARPVTSPGQ>H<LLAPEDVISCCLDLSVPSISFRINGCPVQG | 765 |
RYR2 | GVGDDLFSYGFDGLHLWSGCIARTVSSPNQ>H<LLRTDDVISCCLDLSAPSISFRINGQPVQG | 777 |
RYR3 | GVGDDLYSYGFDGLHLWSGRIPRAVASINQ>H<LLRSDDVVSCCLDLGVPSISFRINGQPVQG | 764 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H735Y | c.2203C>T | 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 |