No paralogue variants have been mapped to residue 4221 for RYR1.
RYR1 | RIYFEISETNRAQWEMPQVKESKRQFIFDV>V<NEGGEAEKMELFVSFCEDTIFEMQIAAQIS | 4251 |
RYR2 | RVYFEISESSRTQWEKPQVKESKRQFIFDV>V<NEGGEKEKMELFVNFCEDTIFEMQLAAQIS | 4207 |
RYR3 | RVYFEISESSRTQWEKPQVKESKRQFIFDV>V<NEGGEQEKMELFVNFCEDTIFEMQLASQIS | 4103 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4221L | c.12661G>C | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.V4221M | c.12661G>A | Putative Benign | SIFT: Polyphen: |