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A Double‐Point Mutation in the Selectivity Filter Site of the KCNQ1 Potassium Channel Results in a Severe Phenotype, LQT1, of Long QT Syndrome

Introduction: Slowly activating delayed‐rectifier potassium currents in the heart are produced by a complex protein with α and β subunits composed of the potassium voltage‐gated channel KQT‐like subfamily, member 1 (KCNQ1) and the potassium voltage‐gated channel Isk‐related family, member 1 (KCNE1), respectively. Mutations in KCNQ1 underlie the most common type of hereditary long QT syndrome (LQTS). Like other potassium channels, KCNQ1 has six transmembrane domains and a highly conserved potassium selectivity filter in the pore helix called “the signature sequence.” We aimed to investigate the functional consequences of a newly identified mutation within the signature sequence.