No paralogue variants have been mapped to residue 2288 for RYR1.
RYR1 | SGIG--L-GMQGSTPLDVAAASVIDNNELA>L<ALQEQDLEKVVSYLAGCGLQSCPMLVAKGY | 2318 |
RYR2 | SSVGLASPAMRGSTPLDVAAASVMDNNELA>L<ALREPDLEKVVRYLAGCGLQSCQMLVSKGY | 2285 |
RYR3 | SSVGLASPSMRGSTPLDVAASSVMDNNELA>L<SLEEPDLEKVVTYLAGCGLQSCPMLLAKGY | 2182 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2288S | c.6863T>C | 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 |