No paralogue variants have been mapped to residue 754 for RYR2.
RYR2 | SYGFDGLHLWSGCIARTVSSPNQHLLRTDD>V<ISCCLDLSAPSISFRINGQPVQGMFENFNI | 784 |
RYR1 | SYGFDGLHLWTGHVARPVTSPGQHLLAPED>V<ISCCLDLSVPSISFRINGCPVQGVFESFNL | 772 |
RYR3 | SYGFDGLHLWSGRIPRAVASINQHLLRSDD>V<VSCCLDLGVPSISFRINGQPVQGMFENFNT | 771 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V754F | c.2260G>T | Putative Benign | rs376923538 | SIFT: deleterious Polyphen: probably damaging |