No paralogue variants have been mapped to residue 1270 for RYR1.
RYR1 | GLPQFEPVPLEHPHYEVSRVDGTVDTPPCL>R<LTHRTWGSQNSLVEMLFLRLSLPVQFHQHF | 1300 |
RYR2 | RLPQFLQVPSNHEHIEVTRIDGTIDSSPCL>K<VTQKSFGSQNSNTDIMFYRLSMPIECAEVF | 1314 |
RYR3 | RLPTFVNVPKDHPHIEVMRIDGTMDSPPCL>K<VTHKTFGTQNSNADMIYCRLSMPVECHSSF | 1300 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1270S | c.3808C>A | Putative Benign | SIFT: Polyphen: | ||
p.R1270P | c.3809G>C | Putative Benign | SIFT: Polyphen: |