No paralogue variants have been mapped to residue 5020 for RYR1.
RYR1 | MFFLMYLINKDETEHTGQESYVWKMYQERC>W<DFFPAGDCFRKQYEDQLS | 5038 |
RYR2 | LFFLMYLINKDETEHTGQESYVWKMYQERC>W<EFFPAGDCFRKQYEDQLN | 4967 |
RYR3 | LFFLMYLINKDETEHTGQESYVWKMYQERC>W<DFFPAGDCFRKQYEDQLG | 4870 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W5020S | c.15059G>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488 | |||
p.W5020C | c.15060G>C | 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 |