No paralogue variants have been mapped to residue 3029 for RYR2.
RYR2 | KEKEMVTSLFCKLGVLVRHRISLFGNDATS>I<VNCLHILGQTLDARTVMKTGLESVKSALRA | 3059 |
RYR1 | KEKEMITSLFCKLAALVRHRVSLFGTDAPA>V<VNCLHILARSLDARTVMKSGPEIVKAGLRS | 3094 |
RYR3 | KEKEMVAGLFCKLAALVRHRISLFGSDSTT>M<VSCLHILAQTLDTRTVMKSGSELVKAGLRA | 2955 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3029V | c.9085A>G | Putative Benign | rs370141970 | SIFT: tolerated Polyphen: benign |