No paralogue variants have been mapped to residue 4935 for RYR1.
RYR1 | PAGDEYELYRVVFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVKEDMETKCFICGIG | 4965 |
RYR2 | PAGDEYEIYRIIFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVKEDMETKCFICGIG | 4894 |
RYR3 | PAGDPYEMYRIVFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVREDMETKCFICGIG | 4797 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4935S | c.14803G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene. Braz J Med Biol Res. 2009 42(12):1218-24. 19918671 | |||
Other Myopathy | Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645 |