No paralogue variants have been mapped to residue 1280 for RYR2.
RYR2 | WLSKRLPQFLQVPSNHEHIEVTRIDGTIDS>S<PCLKVTQKSFGSQNSNTDIMFYRLSMPIEC | 1310 |
RYR1 | WFSKGLPQFEPVPLEHPHYEVSRVDGTVDT>P<PCLRLTHRTWGSQNSLVEMLFLRLSLPVQF | 1296 |
RYR3 | WFSKRLPTFVNVPKDHPHIEVMRIDGTMDS>P<PCLKVTHKTFGTQNSNADMIYCRLSMPVEC | 1296 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1280C | c.3839C>G | Putative Benign | SIFT: Polyphen: | ||
p.S1280F | c.3839C>T | Putative Benign | SIFT: Polyphen: |