No paralogue variants have been mapped to residue 2237 for RYR1.
RYR1 | VMEVMVNVLGGGESKEIRFPKMVTSCCRFL>C<YFCRISRQNQRSMFDHLSYLLENSGIG--L | 2265 |
RYR2 | VMEVMVNVLGGGESKEITFPKMVANCCRFL>C<YFCRISRQNQKAMFDHLSYLLENSSVGLAS | 2231 |
RYR3 | VMEVMVNVLGT-EKSQIAFPKMVASCCRFL>C<YFCRISRQNQKAMFEHLSYLLENSSVGLAS | 2128 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C2237Y | c.6710G>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 |