No paralogue variants have been mapped to residue 4737 for RYR1.
| RYR1 | LNTPSFPSNYWDKFVKRKVLDKHGDIYGRE>R<IAELLGMDLATLEITAHNER-KPNPPPGLL | 4766 |
| RYR2 | INTQSFPNNYWDKFVKRKVMDKYGEFYGRD>R<ISELLGMDKAALDFSDAREKKKPKKDSSLS | 4695 |
| RYR3 | INTPSFPNNYWDKFVKRKVINKYGDLYGAE>R<IAELLGLDKNALDFSPVEET-KA-EAASLV | 4598 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R4737Q | c.14210G>A | Other Myopathy | rs193922868 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667 | |||
| Other Myopathy | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||
| p.R4737W | c.14209C>T | Other Myopathy | rs193922867 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234 | |||
| Other Myopathy | Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. Neuromuscul Disord. 2016 26(1):21-5. doi: 10.1016/j.nmd.2015.11.001. 26631338 | ||||