Fig. 2

AP4M1 mutation and domains. a Exome sequencing data from proband, showing the filtering parameters used to sort through the variant dataset. b Sanger sequencing of part of exon 13 of the AP4M1 gene, forward (left) and reverse (right). The C to T mutation (*) at position 1170 of the coding DNA sequence was found homozygous in the proband (P), and heterozygous in his mother (M); a normal sequence is shown in an unrelated control subject (C). c Linear presentation of the AP4M1 protein, showing the Longin-like domain (residues 1–141) and Mu homology domain (residues 176–453). Arrow, position of the Arg338X mutation. d Crystal structure (PDB 3 l81 [27]) of AP4M1 C-terminal domain (residues 160–453). The portion of the protein truncated by the mutation appears in red