No paralogue variants have been mapped to residue 2529 for RYR1.
RYR1 | KASMVLFLDRVYGIENQDFLLHVLDVGFLP>D<MRAAASLDTATFSTTEMALALNRYLCLAVL | 2559 |
RYR2 | KAAMVLFLDRVYGIEVQDFLLHLLEVGFLP>D<LRAAASLDTAALSATDMALALNRYLCTAVL | 2525 |
RYR3 | KAPMVLFLDRVYGIKDQTFLLHLLEVGFLP>D<LRASASLDTVSLSTTEAALALNRYICSAVL | 2422 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2529N | c.7585G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A. 2012 158A(4):772-8. doi: 10.1002/ajmg.a.35243. 22407809 |