No paralogue variants have been mapped to residue 2000 for ANK2.
ANK2 | EKGKVR--------------------VEKE>K<GPILT-----QREAQK-------TENQTI- | 2017 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | KSAAETSAQHAEKDNQMKPKLERIIEVHIE>K<GNQAEPTEVIIRETKKHPEKEMYVYQKDLS | 2366 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2000E | c.5998A>G | Putative Benign | SIFT: Polyphen: |