No paralogue variants have been mapped to residue 946 for ANK2.
ANK2 | LRDSAVMDDSVVIPSHQVSTLAKEAERNSY>R<-LSWGTENLDNVALSSSPIHSGFLVSFMVD | 975 |
ANK1 | PRIPCAMPETVVIRSEEQEQASKEYDEDSL>I<PSSPATETSDNISPVASPVHTGFLVSFMVD | 920 |
ANK3 | ARDSMMIEELLVPSKEQHLTFTREFDSDSL>R<HYSWAADTLDNVNLVSSPIHSGFLVSFMVD | 991 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R946C | c.2836C>T | Putative Benign | rs200524407 | SIFT: deleterious Polyphen: probably damaging | |
p.R946H | c.2837G>A | Putative Benign | SIFT: Polyphen: |