No paralogue variants have been mapped to residue 474 for RYR1.
RYR1 | LQDLIIYFEPPSEDLQHEEKQSKLRSLRNR>Q<SLFQEEGMLSMVLNCIDRLNVYTTAAHFAE | 504 |
RYR2 | LQDLIGYFHPPDEHLEHEDKQNRLRALKNR>Q<NLFQEEGMINLVLECIDRLHVYSSAAHFAD | 516 |
RYR3 | LQDLIAYFQPPEEEMRHEDKQNKLRSLKNR>Q<NLFKEEGMLALVLNCIDRLNVYNSVAHFAG | 503 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q474H | c.1422G>T | Other Myopathy | rs193922767 | SIFT: Polyphen: | |
Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
Other Myopathy | Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084 |