No paralogue variants have been mapped to residue 354 for ANK2.
ANK2 | PLLARTKNGLSPLHMAAQGDHVECVKHLLQ>H<KAPVDDVTLDYLTALHVAAHCGHYRVTKLL | 384 |
ANK1 | PIQAKTKNGLSPIHMAAQGDHLDCVRLLLQ>Y<DAEIDDITLDHLTPLHVAAHCGHHRVAKVL | 357 |
ANK3 | PILSKTKNGLSPLHMATQGDHLNCVQLLLQ>H<NVPVDDVTNDYLTALHVAAHCGHYKVAKVL | 386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H354Y | c.1060C>T | Putative Benign | rs375189482 | SIFT: tolerated Polyphen: benign |