Fig. 2.

Topological model of ABCA7. Pathogenic ABCA7 missense mutations leading to mislocalization and subsequent loss of functional protein as well as ABCA7 missense mutations corresponding to pathogenic mutations in ABCA transporters implicated in human disease are shown. The ABCA7 sequence was aligned with sequences of ABCA1, 3, 4, 5 and 12. Pathogenic missense mutations in these five genes were downloaded from the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/). ABCA7 missense mutations, previously reported by Le Guennec et al., Sassi et al., Bellenguez et al., De Roeck et al., and Bossaerts et al., that correspond to pathogenic missense mutations in ABCA1, 3, 4, 5 and 12 are shown in the figure [78–82]. Variants marked with a ‘*’ were identified in control individual(s) only. Protein domain and motif information was based on alignment with ABCA1 [83, 84]. ABCA7 missense variants are shown in red. Corresponding pathogenic ABCA1, ABCA4 and ABCA12 mutations are shown in black, blue and purple respectively