No paralogue variants have been mapped to residue 1425 for ANK2.
| ANK2 | LSFMKEPKSTRGLVHQAICNLNITLPIYTK>E<SESDQEQE--------EEIDMTSE--KNDE | 1445 |
| ANK1 | LSFLRKAMKYEDTQ-HILCHLNITMPPCAK>G<SGAEDRRR--------TPTPLALR--YSIL | 1389 |
| ANK3 | LSFLKEPKTTKGLPQTAVCNLNITLPAHKK>E<TESDQDDEIEKTDRRQSFASLALRKRYSYL | 1472 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E1425G | c.4274A>G | Conflict | rs72544141 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | LQTS | Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003 421(6923):634-9. 12571597 | ||
| Inherited Arrhythmia | LQTS | A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 101(24):9137-42. 15178757 | |||
| Inherited Arrhythmia | LQTS | Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease. Proc Natl Acad Sci U S A. 2008 105(40):15617-22. 18832177 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||