No paralogue variants have been mapped to residue 3312 for ANK2.
ANK2 | APPSAEYESSVSEDFLSSVDEENKADEAKP>K<SKLPVKVPLQR--VEQQLSDLDTSVQKTVA | 3340 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | VKVSSGKKTGVLQ--GHCVRDKQKVLGEQQ>K<TKELIGIRQKSKLPIKATSPKDTFPPNHMS | 3882 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3312M | c.9935A>T | Putative Benign | rs376912244 | SIFT: deleterious Polyphen: probably damaging |