No paralogue variants have been mapped to residue 3938 for RYR1.
RYR1 | NTTTINIIICTVDYLLRLQESISDFYWYYS>G<KDVIEEQGKRNFSKAMSVAKQVFNSLTEYI | 3968 |
RYR2 | NNTTVNIIISTVDYLLRVQESISDFYWYYS>G<KDVIDEQGQRNFSKAIQVAKQVFNTLTEYI | 3924 |
RYR3 | NTTTVNVIISTVDYLLRLQESISDFYWYYS>G<KDIIDESGQHNFSKALAVTKQIFNSLTEYI | 3820 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G3938D | c.11813G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645 |