Figure 1

Model of the N-terminal of apoB and positions of FHBL mutations. A, schematic diagram of apoB-100, with predicted locations of βα1, β1, α2, β2, and α3 domains are shown on the top. B, positions of non-truncating FHBL mutations within the N-terminal 1,000 amino acids of apoB-100. Mutations associated with phenotype of hypobetalipoproteinemia (hypoβ) are shown on the top, whereas mutations associated with phenotype of both hypoβ and hepatic steatosis are shown below. C, proposed homologous model of the N-terminal ~930 amino acids of apoB. The β-barrel, α-helical, and β sheet (C-sheet and A-sheet) are highlighted in green, cyan, red, and blue, respectively. Locations of Ala³¹, Gly²⁷⁵, Leu³²⁴, Leu³⁴³, Arg⁴⁶³, and Gly⁹¹² within the modeled βα1 domain are shown as yellow spheres.