No paralogue variants have been mapped to residue 989 for RYR1.
RYR1 | MMSNGYKPAPLDLSHVRLTPAQTTLVDRLA>E<NGHNVWARDRVGQGWSYSAVQDIPARRNPR | 1019 |
RYR2 | QLTSGYKPAPMDLSFIKLTPSQEAMVDKLA>E<NAHNVWARDRIRQGWTYGIQQDVKNRRNPR | 1031 |
RYR3 | MMSNGYKPAPLDLSDVKLLPPQEILVDKLA>E<NAHNVWAKDRIKQGWTYGIQQDLKNKRNPR | 1018 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E989G | c.2966A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265 | |||
Other Disease Phenotype | RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 131(12):1532-40. doi: 10.1001/jamaophthalmol.2013. 24091937 |