No paralogue variants have been mapped to residue 2473 for ANK2.
ANK2 | ---------------AAVAKTELLTEVASV>R<SRLLRDPDGSAEDDSLEQTSLMESSGKSPL | 2503 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | KEIQQGGVKKIISQECKTVQETRGTFYTTR>Q<QKQPPSPQGSPEDDTLEQVSFLDSSGKSPL | 3167 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2473W | c.7417C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.R2473Q | c.7418G>A | Putative Benign | SIFT: Polyphen: |