No paralogue variants have been mapped to residue 3050 for RYR1.
RYR1 | TPAKVLGSGGHASNKEKEMITSLFCKLAAL>V<RHRVSLFGTDAPAVVNCLHILARSLDARTV | 3080 |
RYR2 | AASRPLCSGGHASNKEKEMVTSLFCKLGVL>V<RHRISLFGNDATSIVNCLHILGQTLDARTV | 3045 |
RYR3 | SPLKPLSSSGYASHKEKEMVAGLFCKLAAL>V<RHRISLFGSDSTTMVSCLHILAQTLDTRTV | 2941 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3050I | c.9148G>A | Putative Benign | rs200797340 | SIFT: Polyphen: benign |