Skip to main content
. Author manuscript; available in PMC: 2014 Jan 1.
Published in final edited form as: Hum Mutat. 2012 Oct 11;34(1):83–87. doi: 10.1002/humu.22215

Figure 1. A. Lipid values and regional haplotype of the 19q13.31–13.32 locus in the HC126, HC298 and HC512 families.

Figure 1

Blackened symbols represent affected subjects, white for unaffected subjects while individuals with an undetermined status are in grey. Genotypes are provided in straight, while deduced genotypes are provided in italics. Lipid values are given in mmol/L. * Values under hypocholesterolemic drug therapy. † Total cholesterol without drug : (1) 8.8 mmol/L at 55 years old, (2) 7.98 mmol/L at 43, (3) 14.8 mmol/L at 30, (4) 11.2 mmol/L at 45, (5) 7.98.8 mmol/L at 16. ‡ Died from myocardial infarction at 51 years old. § Presented myocardial infarction at 77 years old. B. In silico analysis of the putative impact of the p.Leu167del mutation. Top: Model obtained. In orange: structural prediction of pLeu167del mutation. In grey: human wild type apo E structural prediction. Leu166 and 167 are shown in green. Bottom: Electrostatic potential of wild-type apo E and p.Leu167del mutant. Charge distribution is represented as a gradient in which positive potentials are drawn in blue and negative in red.