Molecular Cloning of a Human Apolipoprotein E Variant: E5 (Glu3→Lys3)1
Abstract
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.
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rs121918392 (p.E21K) was also associated with dyslipidemia and atherosclerosis.
“rs121918392 (p.E21K) was also associated with dyslipidemia and atherosclerosis.29,32–34”
From Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [34]
rs121918392 (p.E21K) was defined as the APOE ε5 allele.
“rs121918392 (p.E21K) was defined as the APOE ε5 allele29,32–34”
From Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [34]
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Feussner, G., Scharnagl, H., Scherbaum, C., Acar, J., Dobmeyer, J., Lohrmann, J., Wieland, H., & März, W. (1996) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)39106-9 · Cited by 21 · see citing works
Miyashita, A., Obinata, A., Hara, N., Mitsumori, R., Kaneda, D., Hashizume, Y., Sano, T., Takao, M., Gabdulkhaev, R., Tada, M., et al. (2025) · Journal of Alzheimer’s Disease · doi:10.1177/13872877251340710 · Cited by 5 · see citing works
- Authors
- Maeda, H., Nakamura, H., Kobori, S., Okada, M., Niki, H., Ogura, T., & Hiraga, S.
- Affiliations
- Naruto University of Education (JP)
- Kumamoto University (JP)
- Venue
- The Journal of Biochemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 1989-04
- Volume
- 105
- Issue
- 4
- Pages
- 491-493
- ISSN
- 0021-924X (ISSN-L)
- 1756-2651
- OpenAlex
- W1796275297
- Cited by
- 15
- References
- 0
- Citations by year
- 2025: 1 · 2021: 1
- FWCI
- 0.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Biochemistry (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- apolipoprotein E, APOE alleles, gene cloning, amino acid substitutions, human genetic polymorphism
- MeSH terms
- Amino Acid Sequence, Apolipoproteins E, Base Sequence, Cloning, Molecular, DNA, Humans, Molecular Sequence Data
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