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Fig. 3 | Molecular Autism

Fig. 3

From: Prospective investigation of FOXP1 syndrome

Fig. 3

Pathogenic missense mutations in the FOXP1 DNA-binding domain. a Primary sequence and topological representation of the DNA-binding domain (as reported in PDB 2KIU). The five helices (H1-H5), the three β sheet (β1-β3) and the two wings regions (W1, W2) are shown. Residues mutated in the cohort described in this study are in red, while those affected by mutations described in literature are in blue. b Ribbon representation of the DNA binding domain of the FOXP1 monomer interacting with one double-stranded DNA molecule. The surface for the interaction with the DNA and the region involved in domain swapping are indicated by dashed lines. c Ribbon representation of the unbound FOXP1 DNA binding domain showing the missense mutations reported in the literature in blue (Additional file 2: Table S1). d Ribbon representation of the unbound FOXP1 DNA binding domain showing the missense and in-frame mutations reported in our cohort in red (Table 1)

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