|Name||ALFRED UID||Locus Name||Locus Symbol|
External Resources: GenBank sequence Record GenBank sequence Record dbSNP rs# Record dbSNP rs# Record
References: See References
Polymorphism Description: Three common genetic forms of the APOE gene exist in human populations, encoded by three alleles (*2, *3, and *4) at the APOE locus. These forms differ by single amino acid substitutions at one of two positions of the residue protein: APOE*3, which is the most frequent isoform, has cysteine at position 112 and arginine at position 158; APOE*2 has cysteine at position 158; and APOE*4 has arginine at position 112. These changes cause significant differences in the structure and physical properties of the protein and are responsible for the association of apoE protein variants with cholesterol metabolism and risk of atherosclerotic vascular disease (Zekraoui, et al. 1997).
|Allele Name||Allele Symbol||Description|
|APOE*2||APOE*2||Cys112 + Cys158|
|APOE*3||APOE*3||Cys112 + Arg158|
|APOE*4||APOE*4||Arg112 + Arg158|
- Wenham PR, Price WH, Blandell G. "Apolipoprotein E genotyping by one-stage PCR. ". Lancet. 337:1158-9. (1991) Online citation.
- Zekraoui L, Lagarde JP, Raisonnier A, Gerard N, Aouizerate A, Lucotte G. "High Frequency of the Apolipoprotein E*4 Allele in African Pygmies and Most of the African Populations in Sub-Saharan Africa". Hum. Biol. 69:575-81. (1997) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan