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Table 2 Pathogenic gene mutations associated with SQTS variants

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

Mutated gene Encoded protein Functional alteration SQTS variant
KCNH2 α-subunit of the voltage-gated potassium channel that mediates the rapidly activating component of the delayed rectifying potassium current (IKr) Gain-of-function mutation that leads to an increased potassium current and shortening of the action potential [36, 129] SQTS1
KCNQ1 α-subunit of the voltage-gated potassium channel that mediates the slow component of the delayed rectifier potassium current (IKs) Increased repolarizing current [112] SQTS2
KCNJ2 Inward rectifier potassium channel Kir2.1 (IK1) Gain-of-function mutation that leads to an increase in the outward IK1 current and acceleration of the final phase of repolarization [130] SQTS3
CACNAC1C α1-subunit of the L-type calcium channel Loss-of-function mutation leading to a reduction in the depolarizing current [54] SQTS4
CACNB2 β2-subunit of the L-type calcium channel Loss-of-function mutation leading to a reduction in the depolarizing current [54] SQTS5
CACNA2D1 α-2/δ subunit of the L-type calcium channel Loss-of-function mutation leading to a reduction in the depolarizing current [131] SQTS6