No paralogue variants have been mapped to residue 2478 for ANK2.
ANK2 | ----------AAVAKTELLTEVASVRSRLL>R<DPDGSAEDDSLEQTSLMESSGKSPLSPDTP | 2508 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | GGVKKIISQECKTVQETRGTFYTTRQQKQP>P<SPQGSPEDDTLEQVSFLDSSGKSPLTPETP | 3172 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2478Q | c.7433G>A | Putative Benign | rs142684331 | SIFT: Polyphen: probably damaging |