No paralogue variants have been mapped to residue 3903 for RYR1.
RYR1 | VMADDEFTQDLFRFLQLLCEGHNNDFQNYL>R<TQTGNTTTINIIICTVDYLLRLQESISDFY | 3933 |
RYR2 | VLQDDEFTCDLFRFLQLLCEGHNSDFQNYL>R<TQTGNNTTVNIIISTVDYLLRVQESISDFY | 3889 |
RYR3 | VLQNDEFTRDLFRFLQLLCEGHNSDFQNFL>R<TQMGNTTTVNVIISTVDYLLRLQESISDFY | 3785 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3903Q | c.11708G>A | Other Myopathy | rs148399313 | SIFT: Polyphen: | |
Reports | Other Myopathy | Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904 |