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:
MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVRGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKCLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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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