Figure 1.
NEMO mutations in patients with HED-ID. A schematic diagram of the human NEMO protein is shown with the individual domains labeled in boxes (αH, α-helix; C-C, coiled-coil; LZ, leucine zipper; ZF, zinc finger). Sequences containing amino acid substitutions in the three patients studied are displayed in brackets below the gene map. Arrows indicate positions of amino acid substitutions. The particular amino acid altered (underlined) and the substituted residues (circled) are shown. The specific nucleotide point mutation resulting in the missense amino acid is listed above the gene mutation.