No paralogue variants have been mapped to residue 485 for RYR2.
RYR2 | SLQDLIGYFHPPDEHLEHEDKQNRLRALKN>R<QNLFQEEGMINLVLECIDRLHVYSSAAHFA | 515 |
RYR1 | SLQDLIIYFEPPSEDLQHEEKQSKLRSLRN>R<QSLFQEEGMLSMVLNCIDRLNVYTTAAHFA | 503 |
RYR3 | TLQDLIAYFQPPEEEMRHEDKQNKLRSLKN>R<QNLFKEEGMLALVLNCIDRLNVYNSVAHFA | 502 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R485Q | c.1454G>A | Cardiomyopathy | SIFT: Polyphen: | ||
Reports | Cardiomyopathy | HCM | Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175 |