No paralogue variants have been mapped to residue 830 for RYR1.
RYR1 | KFLPPPGYAPCHEAVLPRERLHLEPIKEYR>R<EGPRGPHLVGPSRCLSHTDFVPCPVDTVQI | 860 |
RYR2 | KFLPPPGYAPCYEAVLPKEKLKVEHSREYK>Q<ERTYTRDLLGPTVSLTQAAFTPIPVDTSQI | 872 |
RYR3 | KFLPPSGYAPCYEALLPKEKMRLEPVKEYK>R<DADGIRDLLGTTQFLSQASFIPCPVDTSQV | 859 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R830W | c.2488C>T | Other Disease Phenotype | rs142548565 | SIFT: Polyphen: probably damaging | |
Reports | Other Disease Phenotype | RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145 | |||
p.R830Q | c.2489G>A | Putative Benign | SIFT: Polyphen: |