No paralogue variants have been mapped to residue 2118 for RYR1.
RYR1 | ESKPRSLQELVSHMVVRWAQEDFVQSPELV>R<AMFSLLHRQYDGLGELLRALPRAYTISPSS | 2148 |
RYR2 | SKKSSTLQQLISETMVRWAQESVIEDPELV>R<AMFVLLHRQYDGIGGLVRALPKTYTINGVS | 2112 |
RYR3 | ERCPTTLKELISQTMICWAQEDQIQDSELV>R<MMFNLLRRQYDSIGELLQALRKTYTISHTS | 2010 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2118W | c.6352C>T | Other Myopathy | rs148660840 | SIFT: Polyphen: possibly damaging | |
Reports | Other Myopathy | Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol. 2015 262(7):1728-40. doi: 10.1007/s00415-015-7757-9. 25957634 | |||
p.R2118P | c.6353G>C | Putative Benign | rs201649680 | SIFT: Polyphen: benign |