Molecular cloning of a human apolipoprotein E variant: E5 (Glu3----Lys3).
Two types of apoE alleles from a genomic DNA library of a subject with the apoE2/E5 phenotype have been cloned. One of these alleles encodes an apoE isoprotein having cysteine, arginine, and cysteine at positions 112, 145, and 158 of mature apoE isoproteins, respectively, indicating an epsilon apoE2 allele. The other allele encodes a different isoprotein, having cysteine, arginine, and arginine at each of the above positions, respectively. In addition, this allele has a base substitution (G----A) which causes the substitution of lysine for glutamic acid at position 3 near the NH2-terminus of the mature apoE. This allele is a new variant, the epsilon apoE5 allele.
Department of Home Economics, Faculty of Health and Living Sciences, Naruto University of Education, Tokushima.
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H
Maeda
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Nakamura
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Kobori
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Okada
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Niki
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Ogura
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Hiraga
D000595:Amino Acid Sequence; D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D006801:Humans; D008969:Molecular Sequence Data
D001057:Apolipoproteins E; C049578:apolipoprotein E5; D004247:DNA