No paralogue variants have been mapped to residue 2490 for RYR2.
RYR2 | FCPDHKAAMVLFLDRVYGIEVQDFLLHLLE>V<GFLPDLRAAASLDTAALSATDMALALNRYL | 2520 |
RYR1 | FVPDHKASMVLFLDRVYGIENQDFLLHVLD>V<GFLPDMRAAASLDTATFSTTEMALALNRYL | 2554 |
RYR3 | FCPDHKAPMVLFLDRVYGIKDQTFLLHLLE>V<GFLPDLRASASLDTVSLSTTEAALALNRYI | 2417 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Val2490Ala | c.7469T>C | Unknown | SIFT: Polyphen: |