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.
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
Publications / Origin
- 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
Created on 2019-12-20 14:38:48,
Last reviewed on 2019-12-21 10:40:31 (Show full history)
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