No paralogue variants have been mapped to residue 2124 for ANK2.
ANK2 | SPDRKTSTDFSEVIKQELEDNDKYQQFRLS>E<ETEKAQLHLDQVLTSPFNTTFPLDYMKDEF | 2154 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SDTEESVTDHAGPPSSELQGSDKRSREKIA>T<APKKEILSKIYKDVSENGVGKVSKDEHFDK | 2538 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2124K | c.6370G>A | Putative Benign | SIFT: Polyphen: |