No paralogue variants have been mapped to residue 1243 for RYR1.
RYR1 | FAICGLQEGFEPFAINMQRPVTTWFSKGLP>Q<FEPVPLEHPHYEVSRVDGTVDTPPCLRLTH | 1273 |
RYR2 | FTICGLQEGYEPFAVNTNRDITMWLSKRLP>Q<FLQVPSNHEHIEVTRIDGTIDSSPCLKVTQ | 1287 |
RYR3 | YTMCGLQEGFEPFAVNMNRDVAMWFSKRLP>T<FVNVPKDHPHIEVMRIDGTMDSPPCLKVTH | 1273 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1243L | c.3728A>T | Putative Benign | SIFT: Polyphen: |