No paralogue variants have been mapped to residue 1268 for RYR1.
RYR1 | SKGLPQFEPVPLEHPHYEVSRVDGTVDTPP>C<LRLTHRTWGSQNSLVEMLFLRLSLPVQFHQ | 1298 |
RYR2 | SKRLPQFLQVPSNHEHIEVTRIDGTIDSSP>C<LKVTQKSFGSQNSNTDIMFYRLSMPIECAE | 1312 |
RYR3 | SKRLPTFVNVPKDHPHIEVMRIDGTMDSPP>C<LKVTHKTFGTQNSNADMIYCRLSMPVECHS | 1298 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1268S | c.3802T>A | Putative Benign | SIFT: Polyphen: | ||
p.C1268Y | c.3803G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |