Genetic variation in apolipoprotein A-V in hypertriglyceridemia

Figures

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  FIGURE 1. Map of reported APOA5 coding sequence variants. Boxes represent functional domains of the apo A-V peptide: Black represents the signal peptide, purple represents the N-terminal hydrophilic domain, magenta represents the lipid droplet binding domain, orange represents the positively charged GPIHBP1-interacting domain, and the yellow represents the C-terminal hydrophobic domain (lipid binding domain). Axis numbering represents the amino acid residue number in the primary structure of the newly synthesized apo A-V peptide and the specific residues indicated represent the first and last residues of the domains they share color with. All variants are color-coded according to pathogenicity classification according to ACMG guidelines: red indicates pathogenic or likely pathogenic, orange indicates a variant of uncertain significance (VUS), and green indicates benign or likely benign.

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  FIGURE 2. Map of reported APOA5 noncoding variants. Gene map of APOA5 annotated with variants discovered in the regulatory regions [5’ and 3’ untranslated regions (UTRs), promoter region, etc.], splice donor and acceptor sites, and introns. Numbering underneath boxes indicates exons. Major structural features are color-coded. Black boxes indicate untranslated sequences, blue boxes indicate sequences coding for the apo A-V signal peptide, and green boxes indicate sequences coding for the mature protein. Variants are presented using nucleic acid changes. All variants are color-coded according to pathogenicity classification according to ACMG guidelines: Red indicates pathogenic or likely pathogenic, orange indicates a variant of uncertain significance (VUS), and green indicates benign or likely benign.