No paralogue variants have been mapped to residue 594 for ANK2.
ANK2 | FTPLHVAAKYGSLDVAKLLLQRRAAADSAG>K<NGLTPLHVAAHYDNQKVALLLLEKGASPHA | 624 |
ANK1 | FTPLHVAAKYGKVRVAELLLERDAHPNAAG>K<NGLTPLHVAVHHNNLDIVKLLLPRGGSPHS | 597 |
ANK3 | FTPLHVAAKYGKLEVANLLLQKSASPDAAG>K<SGLTPLHVAAHYDNQKVALLLLDQGASPHA | 626 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K594E | c.1780A>G | Putative Benign | rs369089532 | SIFT: deleterious Polyphen: possibly damaging |