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Table 3 Pathogenic gene mutations associated with CPVT variants

From: Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies

Mutated gene Encoded protein Functional alteration CPVT variant
RyR2 Cardiac ryanodine receptor involved in calcium release from the sarcoplasmic reticulum, mediating excitation–contraction coupling Increase of spontaneous intracellular calcium, oscillations, delayed after-depolarizations, and spatial heterogeneity of repolarization, leading to polymorphic ventricular tachycardia [31, 57] CPVT1
CASQ2 Calsequestrin, a regulatory protein associated with the ryanodine receptor Dysregulation of calcium homeostasis [57, 132] CPVT2
7p22-p14 chromosome anomaly [133] ? ? CPVT3
CALM Calmodulin Calcium overload [57, 134, 135] CPVT4
TRDN Triadin, a protein that connects calsequestrin to the ryanodine receptor stabilizing the calcium channel Diastolic calcium leak and calcium overload in myocytes [57] CPVT5