Journal: Frontiers in Genetics

Article Title: Molecular characterization of a rare heterozygous APOA5 variant in a Chinese family with moderate hypertriglyceridemia

doi: 10.3389/fgene.2026.1796970

Figure Lengend Snippet: Pedigree, basic information and results of biochemical testing for lipid metabolism, and Sanger sequencing results of the HTG family. (A) Pedigree of the HTG family. Black arrow: proband; Half-filled symbol with black: individual who carries the heterozygous APOA5 p. R223C mutation; Unfilled symbol: non-carrier. (B) Basic information and results of biochemical testing for lipid metabolism. Age: age at the time of the examination; BMI: body mass index; TG: triglyceride (reference interval: 0.56–1.71 mmol/L); TC: total cholesterol (2.50–5.70 mmol/L); HDL-C: high-density lipoprotein cholesterol (1.0–2.0 mmol/L); LDL-C: low-density lipoprotein cholesterol (1.81–4.92 mmol/L); APOA1: apolipoprotein A1 (1.0–1.6 g/L); APOB: apolipoprotein B (0.6–1.1 g/L); APOE: apolipoprotein E (27-45 mg/L); Lp(a): lipoprotein (a) (0–300 mg/L); HCY: homocysteine (4–15.4umol/L); Glu: fasting glucose (3.89–6.11 mmol/L); light red and light blue background color indicate that the value is above or below the reference interval, respectively. (C) Sanger sequencing chromatogram of the family. Double peak below the red arrow demonstrates the heterozygosity of the APOA5 mutation (g.chr11:116661278G>A, p. R223C), while single peak indicates a homozygote.

Article Snippet: APOA5 protein sequences from diverse species were retrieved from the National Center for Biotechnology Information (NCBI).

Techniques: Sequencing, Mutagenesis

Journal: Frontiers in Genetics

Article Title: Molecular characterization of a rare heterozygous APOA5 variant in a Chinese family with moderate hypertriglyceridemia

doi: 10.3389/fgene.2026.1796970

Figure Lengend Snippet: Multiple sequence alignment and AA frequency visualization of the APOA5 protein sequences. (A) Multiple sequence alignment result of the APOA5 protein sequences from 50 species. Red arrow: the position 223; (M) mammal; (B) bird; (R) reptile; (A) amphibians; (B) The frequencies of the AAs of the position 223 and flanking residues (±30) across the 30 mammals. Red dashed box: a highly conserved heptapeptide.

Article Snippet: APOA5 protein sequences from diverse species were retrieved from the National Center for Biotechnology Information (NCBI).

Techniques: Sequencing

Journal: Frontiers in Genetics

Article Title: Molecular characterization of a rare heterozygous APOA5 variant in a Chinese family with moderate hypertriglyceridemia

doi: 10.3389/fgene.2026.1796970

Figure Lengend Snippet: The predicted residue interaction states of the position 223 of the wild-type (left) and the mutated APOA5 protein (right) from the perspective of (A) Hydrogen bond and Van der Waals interaction, and (B) salt bridge and polar contact. Hydrogen bond, Van der Waals interaction, salt bridge and polar contact are denoted as red, light blue, yellow and orange dashed line, respectively.

Article Snippet: APOA5 protein sequences from diverse species were retrieved from the National Center for Biotechnology Information (NCBI).

Techniques: Residue