No paralogue variants have been mapped to residue 4733 for RYR1.
RYR1 | DRLVLNTPSFPSNYWDKFVKRKVLDKHGDI>Y<GRERIAELLGMDLATLEITAHNER-KPNPP | 4762 |
RYR2 | DRLVINTQSFPNNYWDKFVKRKVMDKYGEF>Y<GRDRISELLGMDKAALDFSDAREKKKPKKD | 4691 |
RYR3 | DRLVINTPSFPNNYWDKFVKRKVINKYGDL>Y<GAERIAELLGLDKNALDFSPVEET-KA-EA | 4594 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y4733D | c.14197T>G | Other Myopathy | rs193922865 | SIFT: Polyphen: | |
Reports | Other Myopathy | Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587 | |||
p.Y4733C | c.14198A>G | Putative Benign | SIFT: Polyphen: |