No paralogue variants have been mapped to residue 4908 for RYR1.
RYR1 | DDMMTCYLFHMYVGVRAGGGIGDEIEDPAG>D<EYELYRVVFDITFFFFVIVILLAIIQGLII | 4938 |
RYR2 | DDMLTCYMFHMYVGVRAGGGIGDEIEDPAG>D<EYEIYRIIFDITFFFFVIVILLAIIQGLII | 4867 |
RYR3 | DDMMTCYLFHMYVGVRAGGGIGDEIEDPAG>D<PYEMYRIVFDITFFFFVIVILLAIIQGLII | 4770 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4908G | c.14723A>G | 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 |