No paralogue variants have been mapped to residue 4071 for RYR2.
RYR2 | GVISKRDFHKAMESHKHYTQSETEFLLSCA>E<TDENETLDYEEFVKRFHEPAKDIGFNVAVL | 4101 |
RYR1 | GLISKKDFQKAMDSQKQFSGPEIQFLLSCS>E<ADENEMINCEEFANRFQEPARDIGFNVAVL | 4145 |
RYR3 | GIISKKEFQKAMEGQKQYTQSEIDFLLSCA>E<ADENDMFNYVDFVDRFHEPAKDIGFNVAVL | 3997 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4071K | c.12211G>A | Putative Benign | SIFT: Polyphen: |