Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

  title={Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.},
  author={Kenshi Hayashi and Masami Shimizu and Hidekazu Ino and Masato Yamaguchi and Hiroshi Mabuchi and Naoto Hoshi and Haruhiro Higashida},
  journal={Cardiovascular research},
  volume={54 1},
OBJECTIVE In a 32-year-old woman with marked QT prolongation (QTc=0.61 s) and repeated episodes of syncope, we identified a single pertinent base substitution (G to A at 1909) in HERG by genetic analysis. This novel missense mutation is predicted to cause an amino acid substitution of lysine for glutamic acid at position 637 (E637K) in the pore-S6 loop. Therefore, we investigated the role of a glutamic acid at the vicinity of the pore in HERG channels by mutating it to a lysine. METHODS We… CONTINUE READING
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