No paralogue variants have been mapped to residue 3663 for ANK2.
ANK2 | -----------------------AQHKQKE>E<QAVSKESETCDHPPIVSEEDISVGYSTFQD | 3693 |
ANK1 | SSPLRADQYWNEVAVLDAIPLAATEHDTML>E<MSDMQVWSAGLTPSLVTAEDSSLECSKAED | 1592 |
ANK3 | ------------------------------>-<--------IFDYGNISGTRSFADENNVFHD | 4195 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3663K | c.10987G>A | Inherited Arrhythmia | LQTS | rs199473347 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912 | ||
p.E3663Q | c.10987G>C | Putative Benign | SIFT: Polyphen: |