No paralogue variants have been mapped to residue 4941 for RYR1.
RYR1 | ELYRVVFDITFFFFVIVILLAIIQGLIIDA>F<GELRDQQEQVKEDMETKCFICGIGSDYFDT | 4971 |
RYR2 | EIYRIIFDITFFFFVIVILLAIIQGLIIDA>F<GELRDQQEQVKEDMETKCFICGIGNDYFDT | 4900 |
RYR3 | EMYRIVFDITFFFFVIVILLAIIQGLIIDA>F<GELRDQQEQVREDMETKCFICGIGNDYFDT | 4803 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4941C | c.14822T>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. Neuromuscul Disord. 2013 23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. 23183335 |