No paralogue variants have been mapped to residue 3587 for ANK2.
ANK2 | ELDFTEEQIHQIRIENPNSLQDQSHALLKY>W<LERDGKHATDTNLVECLTKINRMDIVHLME | 3617 |
ANK1 | ELQFSVEDINRIRVENPNSLLEQSVALLNL>W<VIREGQNANMENLYTALQSIDRGEIVNMLE | 1484 |
ANK3 | ELNFSVDEINQIRVENPNSLISQSFMLLKK>W<VTRDGKNATTDALTSVLTKINRIDIVTLLE | 4171 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W3587R | c.10759T>A | Inherited Arrhythmia | LQTS | rs199473346 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Analysis of ankyrin-B gene mutations in patients with long QT syndrome. Nan Fang Yi Ke Da Xue Xue Bao. 2006 26(7):901-3, 909. 16864073 |