No paralogue variants have been mapped to residue 3242 for ANK2.
ANK2 | PDSSEPAVQVQLDFSTLTRSVYSDRGDDSP>D<SSPEEQKSVIEIPTAPMENVPFTESKSKIP | 3272 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | TANSQMGVRPHEK-HDFQKDNFNNN--NNL>D<SSTIQTDNI-------MSNIVLTEH--SAP | 3814 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3242E | c.9726T>G | Putative Benign | rs149043752 | SIFT: Polyphen: benign | |
p.D3242V | c.9725A>T | Putative Benign | rs369168580 | SIFT: deleterious Polyphen: possibly damaging |