No paralogue variants have been mapped to residue 2148 for ANK2.
ANK2 | QQFRLSEETEKAQLHLDQVLTSPFNTTFPL>D<YMKDEFLPA---------------LSLQSG | 2163 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SREKIATAPKKEILSKIYKDVSENGVGKVS>K<DEHFDKVTVLHYSGNVSSPKHAMWMRFTED | 2562 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2148E | c.6444C>A | Putative Benign | rs60228337 | SIFT: tolerated Polyphen: probably damaging | |
p.D2148E | c.6444C>G | Putative Benign | rs60228337 | SIFT: tolerated Polyphen: benign | |
p.D2148N | c.6442G>A | Putative Benign | SIFT: tolerated Polyphen: possibly damaging | ||
p.D2148G | c.6443A>G | Putative Benign | SIFT: Polyphen: |