No paralogue variants have been mapped to residue 4918 for RYR1.
RYR1 | MYVGVRAGGGIGDEIEDPAGDEYELYRVVF>D<ITFFFFVIVILLAIIQGLIIDAFGELRDQQ | 4948 |
RYR2 | MYVGVRAGGGIGDEIEDPAGDEYEIYRIIF>D<ITFFFFVIVILLAIIQGLIIDAFGELRDQQ | 4877 |
RYR3 | MYVGVRAGGGIGDEIEDPAGDPYEMYRIVF>D<ITFFFFVIVILLAIIQGLIIDAFGELRDQQ | 4780 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4918N | c.14752G>A | 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 |