IthaID: 3552

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: APOE ε4 HGVS Name: NG_007084.2:g.[7903T>C;8041C>T]

Protein sequence:

Also known as: rs429358, rs7412

Comments: The APOE-ε4 allele is a combination of two SNPs on exon 4, rs429358 (C) and rs7412 (C). The ε4 allele may be a genetic risk factor for the development of LVF in homozygous β-thalassemia.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Left ventricular diastolic dysfunction [HP:0025168]


Chromosome: 19
Locus: NG_007084.2
Locus Location: 7903 or 8041
Size: 1 bp or 1 bp
Located at: APOE
Specific Location: Exon 4

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Greek
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Economou-Petersen E, Aessopos A, Kladi A, Flevari P, Karabatsos F, Fragodimitri C, Nicolaidis P, Vrettou H, Vassilopoulos D, Karagiorga-Lagana M, Kremastinos DT, Petersen MB, Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia., Blood , 92(9), 3455-9, 1998 PubMed
Created on 2019-12-20 14:38:48, Last reviewed on 2019-12-21 10:40:31 (Show full history)

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