Figure 1.

Schematic diagram of the conserved domains found in the human IQSEC2 protein and the distribution of mutations found in IQSEC2 cases. The top panel (A) depicts the protein encoded by the most abundant transcript for human IQSEC2, which contains 1488 amino acids. The known conserved domains and motifs are shown in blue. They are: CC-coiled coil, IQ–calmodulin binding site, SEC7-catalytic domain for GTP/GDP exchange on ARF, PH-pleckstrin homology domain, PRM–proline-rich motif, and PDZ-PSD-95 binding motif. The bottom panel (B) shows the distribution of mutations found in the IQSEC2 gene (mutations were taken from Tables 2 and 3 from reference [3]) Missense mutations are shown in red; all other mutations (which include intragenic nonsense, duplication/truncation, in-frame deletions, and splicing variants) are shown in green. Hatched red bars show missense mutations associated with ASD. Hatched green bars show all other mutations associated with ASD. The positions of all mutations were arbitrarily chosen as the N terminal starting point. Mutations were considered to be associated with ASD if at least one member of the family was listed as having ASD traits or displaying autistic behavior.