Table 1.

Human ANK2 variants linked to in vitro loss-of-function

Variant	Domain	Phenotype	Reference
S646F	MBD	Long QT, syncope, seizures, dilated cardiomyopathy with SCD, congenital heart defect, Wolff-Parkinson-White syndrome	38
R990Q	SBD	Long QT, syncope, ventricular fibrillation, sudden cardiac arrest	39
E1425G	SBD	Long QT, sinus node bradycardia, CPVT, atrial fibrillation, polyphasic t-waves, SCD	22
V1516D	DD	Atrial fibrillation, exercise-induced VT, drug-induced long QT, syncope, Brugada syndrome, bradycardia, CPVT	40
T1626N	CTD	Long QT, sinus arrhythmia, syncope, SCD	14
R1788W	CTD	Long QT, bradycardia, syncope, supraventricular and ventricular arrhythmias	14

MBD, membrane-binding domain; SBD, spectrin-binding domain; DD, death domain; CTD, C-terminal domain; SCD, sudden cardiac death; CPVT, catecholaminergic polymorphic ventricular tachycardia