No paralogue variants have been mapped to residue 1269 for RYR2.
RYR2 | FAVNTNRDITMWLSKRLPQFLQVPSNHEHI>E<VTRIDGTIDSSPCLKVTQKSFGSQNSNTDI | 1299 |
RYR1 | FAINMQRPVTTWFSKGLPQFEPVPLEHPHY>E<VSRVDGTVDTPPCLRLTHRTWGSQNSLVEM | 1285 |
RYR3 | FAVNMNRDVAMWFSKRLPTFVNVPKDHPHI>E<VMRIDGTMDSPPCLKVTHKTFGTQNSNADM | 1285 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1269Q | c.3805G>C | Putative Benign | SIFT: Polyphen: |