No paralogue variants have been mapped to residue 4115 for RYR1.
RYR1 | GLISKKDFQKAMDSQKQFSGPEIQFLLSCS>E<ADENEMINCEEFANRFQEPARDIGFNVAVL | 4145 |
RYR2 | GVISKRDFHKAMESHKHYTQSETEFLLSCA>E<TDENETLDYEEFVKRFHEPAKDIGFNVAVL | 4101 |
RYR3 | GIISKKEFQKAMEGQKQYTQSEIDFLLSCA>E<ADENDMFNYVDFVDRFHEPAKDIGFNVAVL | 3997 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4115D | c.12345A>C | Putative Benign | rs148923077 | SIFT: Polyphen: benign | |
p.E4115K | c.12343G>A | Putative Benign | SIFT: Polyphen: |