title: New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome.
authors.affiliation: Steinbeis-Transfer-Laboratorium for biomolecular medicine, University of Konstanz, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Jahr
authors.forename: T
authors.initials: T
authors.lastname: Lewalter
authors.forename: R D
authors.initials: RD
authors.lastname: Hesch
authors.forename: B
authors.initials: B
authors.lastname: Lüderitz
authors.forename: S
authors.initials: S
authors.lastname: Englisch
mesh_terms: D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005998:Glycine / Q000235:genetics; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG; D014633:Valine / Q000235:genetics
chemical_list: D027682:Cation Transport Proteins; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG; D014633:Valine; D005998:Glycine