No paralogue variants have been mapped to residue 2152 for ANK2.
ANK2 | LSEETEKAQLHLDQVLTSPFNTTFPLDYMK>D<EFLPA---------------LSLQSGALDG | 2167 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | IATAPKKEILSKIYKDVSENGVGKVSKDEH>F<DKVTVLHYSGNVSSPKHAMWMRFTEDRLDR | 2566 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2152H | c.6454G>C | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |