No paralogue variants have been mapped to residue 3213 for ANK2.
ANK2 | AVSVGTKDLPTVQTGDIPP-LSGVKQISCP>D<SSEPAVQVQLDFSTLTRSVYSDRGDDSPDS | 3243 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | GPGEITDKIEAVMTSCQGLENETITMISNT>A<NSQMGVRPHEK-HDFQKDNFNNN--NNLDS | 3794 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3213Y | c.9637G>T | Putative Benign | rs371808294 | SIFT: deleterious Polyphen: possibly damaging | |
p.D3213N | c.9637G>A | Putative Benign | SIFT: Polyphen: |