No paralogue variants have been mapped to residue 2044 for ANK2.
ANK2 | RGQRLPVTGTAESKR-----GVRVSSIGVK>K<EDAAGGKEKVL------------SHKIPEP | 2062 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | QGQQEEEELTAEESLPSYLESSRVNTPVSQ>E<EDSRPSSAQLISDDSYKTLKLLSQHSIEYH | 2449 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2044E | c.6130A>G | Putative Benign | SIFT: Polyphen: |