No paralogue variants have been mapped to residue 764 for RYR1.
RYR1 | QHLLAPEDVISCCLDLSVPSISFRINGCPV>Q<GVFESFNLDGLFFPVVSFSAGVKVRFLLGG | 794 |
RYR2 | QHLLRTDDVISCCLDLSAPSISFRINGQPV>Q<GMFENFNIDGLFFPVVSFSAGIKVRFLLGG | 806 |
RYR3 | QHLLRSDDVVSCCLDLGVPSISFRINGQPV>Q<GMFENFNTDGLFFPVMSFSAGVKVRFLMGG | 793 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q764H | c.2292G>C | Putative Benign | SIFT: Polyphen: |