No paralogue variants have been mapped to residue 4223 for RYR1.
RYR1 | YFEISETNRAQWEMPQVKESKRQFIFDVVN>E<GGEAEKMELFVSFCEDTIFEMQIAAQISEP | 4253 |
RYR2 | YFEISESSRTQWEKPQVKESKRQFIFDVVN>E<GGEKEKMELFVNFCEDTIFEMQLAAQISES | 4209 |
RYR3 | YFEISESSRTQWEKPQVKESKRQFIFDVVN>E<GGEQEKMELFVNFCEDTIFEMQLASQISES | 4105 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4223Q | c.12667G>C | Putative Benign | SIFT: Polyphen: |