No paralogue variants have been mapped to residue 4214 for RYR1.
RYR1 | GASRRIERIYFEISETNRAQWEMPQVKESK>R<QFIFDVVNEGGEAEKMELFVSFCEDTIFEM | 4244 |
RYR2 | GSAKRIERVYFEISESSRTQWEKPQVKESK>R<QFIFDVVNEGGEKEKMELFVNFCEDTIFEM | 4200 |
RYR3 | GGAKKIERVYFEISESSRTQWEKPQVKESK>R<QFIFDVVNEGGEQEKMELFVNFCEDTIFEM | 4096 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4214H | c.12641G>A | Putative Benign | rs370527763 | SIFT: deleterious Polyphen: benign |