Paralogue Annotation for ANK2 residue 3601

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3601
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3601

No paralogue variants have been mapped to residue 3601 for ANK2.



ANK2ENPNSLQDQSHALLKYWLERDGKHATDTNL>V<ECLTKINRMDIVHLMETNT-EPLQERISHS3630
ANK1ENPNSLLEQSVALLNLWVIREGQNANMENL>Y<TALQSIDRGEIVNMLEGSGRQSRNLKPDRR1498
ANK3ENPNSLISQSFMLLKKWVTRDGKNATTDAL>T<SVLTKINRIDIVTLLEGP------------4173
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V3601Dc.10802T>A ConflictSIFT: tolerated
Polyphen: possibly damaging
ReportsOther Cardiac Phenotype Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation. 2007 115(4):432-41. 17242276
Other Cardiac Phenotype New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405
p.V3601Ic.10801G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
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