Figure 1 | Scientific Reports

Figure 1

From: New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

Figure 1

Pedigree of family HC138 with status of the p.Ala3396Thr mutation of APOB and the p.Arg96Cys of PCSK9 for each patient. (A) Lipid levels are given when available in mg/dL with the age at clinical measurement. The −/− indicates the absence of the mutation while +/− indicates the heterozygous carriers. The asterisk shows the patients studied by exome sequencing. (B–C) Conservation of the alanine at position 3396 of APOB and the arginine at position 96 of PCSK9 between different species. In-silico prediction analysis of both mutations using Polyphen, Sift, and Mutation taster tools.

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