Paralogue Annotation for ANK2 residue 3537

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3537
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3537

No paralogue variants have been mapped to residue 3537 for ANK2.



ANK2DESIETLIERIPDENGHDHAEDPQDEQERI>E<ERLAYIADHLGFSWTELARELDFTEEQIHQ3567
ANK1---------------------GSLSGTEQA>E<MKMAVISEHLGLSWAELARELQFSVEDINR1434
ANK3A-PLKSKSEKAGSEKRSSRRTGPQSPCERT>D<IRMAIVADHLGLSWTELARELNFSVDEINQ4121
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3537Kc.10609G>A Inherited ArrhythmiaLQTSrs180843436SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS 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