No paralogue variants have been mapped to residue 767 for RYR2.
RYR2 | IARTVSSPNQHLLRTDDVISCCLDLSAPSI>S<FRINGQPVQGMFENFNIDGLFFPVVSFSAG | 797 |
RYR1 | VARPVTSPGQHLLAPEDVISCCLDLSVPSI>S<FRINGCPVQGVFESFNLDGLFFPVVSFSAG | 785 |
RYR3 | IPRAVASINQHLLRSDDVVSCCLDLGVPSI>S<FRINGQPVQGMFENFNTDGLFFPVMSFSAG | 784 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S767L | c.2300C>T | Putative Benign | SIFT: Polyphen: |