No paralogue variants have been mapped to residue 4133 for RYR1.
RYR1 | SGPEIQFLLSCSEADENEMINCEEFANRFQ>E<PARDIGFNVAVLLTNLSEHVPHDPRLHNFL | 4163 |
RYR2 | TQSETEFLLSCAETDENETLDYEEFVKRFH>E<PAKDIGFNVAVLLTNLSEHMPNDTRLQTFL | 4119 |
RYR3 | TQSEIDFLLSCAEADENDMFNYVDFVDRFH>E<PAKDIGFNVAVLLTNLSEHMPNDSRLKCLL | 4015 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4133G | c.12398A>G | Other Myopathy | rs201321695 | SIFT: Polyphen: benign | |
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 |