No paralogue variants have been mapped to residue 2479 for ANK2.
ANK2 | ---------AAVAKTELLTEVASVRSRLLR>D<PDGSAEDDSLEQTSLMESSGKSPLSPDTPS | 2509 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | GVKKIISQECKTVQETRGTFYTTRQQKQPP>S<PQGSPEDDTLEQVSFLDSSGKSPLTPETPS | 3173 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2479V | c.7436A>T | Putative Benign | rs367601671 | SIFT: deleterious Polyphen: probably damaging | |
p.Asp2479Gly | c.7436A>G | Unknown | SIFT: Polyphen: |