No paralogue variants have been mapped to residue 2348 for RYR1.
RYR1 | YPDIGWNPCGGERYLDFLRFAVFVNGESVE>E<NANVVVRLLIRKPECFGPALRGEGGSGLLA | 2378 |
RYR2 | YPDIGWNPVEGERYLDFLRFAVFCNGESVE>E<NANVVVRLLIRRPECFGPALRGEGGNGLLA | 2345 |
RYR3 | YPDVGWNPIEGERYLSFLRFAVFVNSESVE>E<NASVVVKLLIRRPECFGPALRGEGGNGLLA | 2242 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2348G | c.7043A>G | Other Myopathy | rs193922801 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404 |