No paralogue variants have been mapped to residue 596 for ANK2.
ANK2 | PLHVAAKYGSLDVAKLLLQRRAAADSAGKN>G<LTPLHVAAHYDNQKVALLLLEKGASPHATA | 626 |
ANK1 | PLHVAAKYGKVRVAELLLERDAHPNAAGKN>G<LTPLHVAVHHNNLDIVKLLLPRGGSPHSPA | 599 |
ANK3 | PLHVAAKYGKLEVANLLLQKSASPDAAGKS>G<LTPLHVAAHYDNQKVALLLLDQGASPHAAA | 628 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G596S | c.1786G>A | Putative Benign | rs377076801 | SIFT: deleterious Polyphen: probably damaging | |
p.G596C | c.1786G>T | Putative Benign | SIFT: Polyphen: |