Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning

For the first time, a patient with asymptomatic QT interval prolongation was found to carry missense mutation c.277G>A (p.Val93Ile) in KCNJ2 gene, described previously only as cause of familial form atrial fibrillation. The corresponding amino acid substitution introduced into plasmid encoding Kir2.1 channel and mutant gene expressed Chinese hamster ovary cells (CHO-K1) evaluate effect on IK1 current parameters. Using whole-cell patch-clamp technique voltage clamp mode, integral studied. results revealed that is implemented according gain-of-function type significantly changes functioning Kir 2.1 channel. presence stable activating protein function argues favor clinical significance identified variant.