No paralogue variants have been mapped to residue 2002 for ANK2.
ANK2 | GKVR--------------------VEKEKG>P<ILT-----QREAQK-------TENQTI--- | 2017 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | AAETSAQHAEKDNQMKPKLERIIEVHIEKG>N<QAEPTEVIIRETKKHPEKEMYVYQKDLSRG | 2368 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2002L | c.6005C>T | Putative Benign | rs151268188 | SIFT: Polyphen: benign |