No paralogue variants have been mapped to residue 3537 for ANK2.
ANK2 | DESIETLIERIPDENGHDHAEDPQDEQERI>E<ERLAYIADHLGFSWTELARELDFTEEQIHQ | 3567 |
ANK1 | ---------------------GSLSGTEQA>E<MKMAVISEHLGLSWAELARELQFSVEDINR | 1434 |
ANK3 | A-PLKSKSEKAGSEKRSSRRTGPQSPCERT>D<IRMAIVADHLGLSWTELARELNFSVDEINQ | 4121 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3537K | c.10609G>A | Inherited Arrhythmia | LQTS | rs180843436 | SIFT: deleterious Polyphen: possibly damaging |
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 | ||
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 |