Fig. 1

Topological model of ABCA7 with all rare missense mutations and deletions identified in the Belgian cohort. Splice mutations are not indicated in the figure because of their location outside the coding sequence. ABCA7 consists of two transmembrane domains (TMD) with large extracellular loops between the first and second transmembrane helix and two nucleotide binding domains (NBD), containing three motifs. Mutations identified exclusively in control individuals are shown in black. Mutations found in both patients and controls are shown in red. Mutations identified exclusively in patients are indicated in bold. Alignment of the ABCA1, ABCA4 and ABCA7 sequence revealed five mutations (underlined) that correspond to positions in ABCA1 and/or ABCA4 on which disease-associated mutations are found (Additional file 1: Table S6). Protein domain and motif information was based on alignment with ABCA1 [24, 70]