No paralogue variants have been mapped to residue 2963 for RYR1.
RYR1 | NGYAVTRGLKDMELDSSSIEKRFAFGFLQQ>L<LRWMDISQEFIAHLEAVVSSGRVEKSPHEQ | 2993 |
RYR2 | NGYAVSRGFKDLELDTPSIEKRFAYSFLQQ>L<IRYVDEAHQYILEFDGG-SRGKGEHFPYEQ | 2958 |
RYR3 | NGIIVSRGMKDMELDASSMEKRFAYKFLKK>I<LKYVDSAQEFIAHLEAIVSSGKTEKSPRDQ | 2854 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2963P | c.8888T>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013 8(6):e67527. doi: 10.1371/journal.pone.0067527. Pr 23826317 | |||
Other Myopathy | RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul Disord. 2014 24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. 24951453 |