Figure 1
From: De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
Location of KCNB1 mutations on human Kv2.1 protein obtained from UniProt (Q14721, http://www.uniprot.org/uniprot/). Four previously reported mutations16,17,18,19 (black circles) and the two mutations identified in this study (stars) are shown. The p.R306C mutation occurs at a conserved positively charged residue (asterisk) in the S4 segment, which is important for voltage sensing20. The p.G401R mutation substitutes a highly conserved glycine residue in the S6 segment, which functions as a gating hinge2. Homologous sequences were aligned using the CLUSTALW web site (http://www.genome.jp/tools/clustalw/).
