No paralogue variants have been mapped to residue 868 for RYR1.
RYR1 | LVGPSRCLSHTDFVPCPVDTVQIVLPPHLE>R<IREKLAENIHELWALTRIEQGWTYGPVRDD | 898 |
RYR2 | LLGPTVSLTQAAFTPIPVDTSQIVLPPHLE>R<IREKLAENIHELWVMNKIELGWQYGPVRDD | 910 |
RYR3 | LLGTTQFLSQASFIPCPVDTSQVILPPHLE>K<IRDRLAENIHELWGMNKIELGWTFGKIRDD | 897 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R868C | c.2602C>T | Putative Benign | rs138020885 | SIFT: Polyphen: probably damaging | |
p.R868H | c.2603G>A | 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 |