No paralogue variants have been mapped to residue 4640 for RYR1.
RYR1 | GW-GLGAGEEAEGDEDENMVYYFLEESTGY>M<EPALRCLSLLHTLVAFLCIIGYNCLKVPLV | 4670 |
RYR2 | -VTSLDS-----SSHRIIAVHYVLEESSGY>M<EPTLRILAILHTVISFFCIIGYYCLKVPLV | 4598 |
RYR3 | ---SFND-----EEEEEAMVFFVLQESTGY>M<APTLRALAIIHTIISLVCVVGYYCLKVPLV | 4503 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4640R | c.13919T>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 | |||
p.M4640V | c.13918A>G | Putative Benign | SIFT: Polyphen: |