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. 2014 Jun 13;15(7):766–774. doi: 10.15252/embr.201438840

Figure 1. Identified KCC2 (SLC12A5) variants in human IGE.

Figure 1

A DNA chromatograms illustrating the detection of c.2855 G > A (p.R952H) and c.3145 C > T (p.R1049C) via Sanger sequencing.

B, C Evolutionary conservation of amino acids p.R952 and p.R1049.

D Schematic representation of KCC2 (human). Orange dots indicate the positions of the known critical phospho-regulatory residues p.T906, p.S940, p.T1007, and p.Y1087 (reviewed in 10). Pink region denotes the KCC2 ‘ISO’ domain, required for hyperpolarizing GABAergic transmission 13. Red dots depict the two identified IGE mutations, p.R952 and p.R1049.

E The modeled structure of the human KCC2 C-terminal domain, based on homology modeling by I-TASSER using a prokaryotic member of the cation-chloride cotransporter family (PDB code 3g40) (see Materials and Methods for details). Color scheme same as in (D). Note the proximity of the KCC2 IGE variants to important regulatory residues and domains.