The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III …

Y Horie, S Fazio, JR Westerlund, KH Weisgraber… - Journal of Biological …, 1992 - ASBMB
Type III hyperlipoproteinemia typically is associated with homozygosity for apolipoprotein
(apo) E2 (Arg158----Cys). Dominant expression of type III hyperlipoproteinemia associated
with apoE phenotype E3/3 is caused by heterozygosity for a human apoE variant, apoE3
(Cys112----Arg, Arg142----Cys). However, this apoE3 variant was not separable from the
normal apoE3 in these patients' plasma because the two proteins have identical amino acid
composition, charge, and molecular weight. Therefore, to determine the functional …