No paralogue variants have been mapped to residue 2548 for ANK2.
ANK2 | --------TPKPAVIHECAEEDDSENGEKK>R<FTPEEEMFKMVTKIKMFDELEQEAKQKRDY | 2578 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | IAYIPGKPSPIPEVSEESEEEEQAKSTSLK>Q<TTVEETAVEREM----------PNDVSKDS | 3240 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2548K | c.7643G>A | Putative Benign | rs369041815 | SIFT: tolerated Polyphen: probably damaging |