Fig. 2
From: Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice
Overview of molecular findings in PDZD8-related IDDADF. A Sanger sequence chromatograms showing the PDZD8 nonsense mutation (c.88 C > T) identified in family C. B Schematic diagram depicting domain structure of PDZD8 in human (UniProtKB: Q8NEN9; top) and mouse (UniProtKB: B9EJ80; bottom). Broken vertical red lines indicate the location of PTC in family A (p.S733*), family B (p.Y298*) and family C (p.Q30*), and in Pdzd8tm1b mice (p.F333Nfs1*). Numbering is from reference [2]. C Location of the p.(Q30*), p.(Y298*) and p.(S733*) variants (red text) within protein sequence and domain organization of human PDZD8 (Q8NEN9). Blue text indicates the residues (L334 & I335) corresponding to F333 and I334 affected by p.(F333Nfs1*) in mouse PDZD8. C, carboxyl-terminus; C1, phorbol-ester/diacylglycerol-binding; CC, coiled-coil; ER, endoplasmic reticulum transmembrane; N, amino-terminus; PR, proline-rich; PDZ, PSD-95/DlgA/ZO-1-like; SMP, synaptotagmin-like mitochondrial lipid-binding