No paralogue variants have been mapped to residue 2043 for ANK2.
ANK2 | KRGQRLPVTGTAESKR-----GVRVSSIGV>K<KEDAAGGKEKVL------------SHKIPE | 2061 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | EQGQQEEEELTAEESLPSYLESSRVNTPVS>Q<EEDSRPSSAQLISDDSYKTLKLLSQHSIEY | 2448 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2043N | c.6129G>T | Putative Benign | rs144848998 | SIFT: Polyphen: benign |