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. 2022 May 21;23(10):5792. doi: 10.3390/ijms23105792

Figure 1.

Figure 1

Rare APOE variants identified in the French ADH/FCHL cohort. Three of the four APOE exons encode the 317 amino acid apoE precursor. The binding site for the LDL receptor is at residues 154–168. The lipid-binding site is at residues 262–290. Between the two sites, the hinge domain is at residues 218–233. Variants are distributed on coding, intronic, promoter, and 3’UTR regions, including missense, synonymous, splicing, or regulatory variants. Variants only present in FCHL patients are highlighted in grey, and variants present in both ADH and FCHL patients are highlighted in grey and underlined.