New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome.
Jahr
S
S
Steinbeis-Transfer-Laboratorium for biomolecular medicine, University of Konstanz, Germany.
Lewalter
T
T
Hesch
R D
RD
Lüderitz
B
B
Englisch
S
S
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
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