No paralogue variants have been mapped to residue 709 for RYR2.
RYR2 | VDHTEPFVTAEATHLRVGWASTEGYSPYPG>G<GEEWGGNGVGDDLFSYGFDGLHLWSGCIAR | 739 |
RYR1 | VDEVTPFLTAQATHLRVGWALTEGYTPYPG>A<GEGWGGNGVGDDLYSYGFDGLHLWTGHVAR | 727 |
RYR3 | IDQVDPFLTAEPTHLRVGWASSSGYAPYPG>G<GEGWGGNGVGDDLYSYGFDGLHLWSGRIPR | 726 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G709W | c.2125G>T | Putative Benign | SIFT: Polyphen: |