No paralogue variants have been mapped to residue 4070 for RYR2.
RYR2 | KGVISKRDFHKAMESHKHYTQSETEFLLSC>A<ETDENETLDYEEFVKRFHEPAKDIGFNVAV | 4100 |
RYR1 | RGLISKKDFQKAMDSQKQFSGPEIQFLLSC>S<EADENEMINCEEFANRFQEPARDIGFNVAV | 4144 |
RYR3 | KGIISKKEFQKAMEGQKQYTQSEIDFLLSC>A<EADENDMFNYVDFVDRFHEPAKDIGFNVAV | 3996 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4070V | c.12209C>T | Putative Benign | SIFT: Polyphen: | ||
p.A4070E | c.12209C>A | Putative Benign | SIFT: Polyphen: |