No paralogue variants have been mapped to residue 4178 for RYR1.
RYR1 | NLSEHVPHDPRLHNFLELAESILEYFRPYL>G<RIEIMGASRRIERIYFEISETNRAQWEMPQ | 4208 |
RYR2 | NLSEHMPNDTRLQTFLELAESVLNYFQPFL>G<RIEIMGSAKRIERVYFEISESSRTQWEKPQ | 4164 |
RYR3 | NLSEHMPNDSRLKCLLDPAESVLNYFEPYL>G<RIEIMGGAKKIERVYFEISESSRTQWEKPQ | 4060 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4178S | c.12532G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488 |