No paralogue variants have been mapped to residue 1279 for RYR2.
RYR2 | MWLSKRLPQFLQVPSNHEHIEVTRIDGTID>S<SPCLKVTQKSFGSQNSNTDIMFYRLSMPIE | 1309 |
RYR1 | TWFSKGLPQFEPVPLEHPHYEVSRVDGTVD>T<PPCLRLTHRTWGSQNSLVEMLFLRLSLPVQ | 1295 |
RYR3 | MWFSKRLPTFVNVPKDHPHIEVMRIDGTMD>S<PPCLKVTHKTFGTQNSNADMIYCRLSMPVE | 1295 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1279T | c.3836G>C | Putative Benign | SIFT: Polyphen: |