Fig. 1

FOXP1 mutations. The mutations described in this study and those described in the literature are shown in the upper and lower panels, respectively. FOXP1 domains are reported as described for Q9H334–1 in Uniprot. The two nuclear localization signals (NLS) are indicated as previously reported [68]. Missense and in-frame mutations are indicated in blue, while loss-of-function (LoF) mutations are indicated in black. Recurrent mutations are indicated in bold. The position of c.975-2A > C reflects the Lys325Asnfs*12 mutation. The positions of the other splice-site mutations reflect the first residue of the exon downstream of the intron