No paralogue variants have been mapped to residue 4735 for RYR1.
RYR1 | LVLNTPSFPSNYWDKFVKRKVLDKHGDIYG>R<ERIAELLGMDLATLEITAHNER-KPNPPPG | 4764 |
RYR2 | LVINTQSFPNNYWDKFVKRKVMDKYGEFYG>R<DRISELLGMDKAALDFSDAREKKKPKKDSS | 4693 |
RYR3 | LVINTPSFPNNYWDKFVKRKVINKYGDLYG>A<ERIAELLGLDKNALDFSPVEET-KA-EAAS | 4596 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4735Q | c.14204G>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 | |||
p.R4735W | c.14203C>T | Putative Benign | SIFT: Polyphen: |