Mutations
APOE V179A
Mature Protein Numbering: V161A
Quick Links
Overview
Clinical
Phenotype: Hyperlipoproteinemia Type IIb
Position: (GRCh38/hg38):Chr19:44908832 T>C
Position: (GRCh37/hg19):Chr19:45412089 T>C
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs1421977676
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected RNA
Consequence: Substitution
Expected Protein
Consequence: Missense
Codon
Change: GTG to GCG
Reference
Isoform: APOE Isoform 1
Genomic
Region: Exon 4
Findings
This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individuals with primary dyslipidemia (Abou Khalil et al., 2022). The carrier had elevated triglycerides in blood and was diagnosed with familial combined hyperlipidemia, also known as hyperlipoproteinemia type IIb, and cardiovascular disease. Their APOE genotype was APOE3/E3.
The variant was absent from the gnomAD variant database (gnomAD v3.1.1, Nov 2021).
Biological Effect
The biological effect of this variant is unknown. Predictions from multiple computational algorithms yielded mixed results (Abou Khalil et al., 2022). Its PHRED-scaled CADD score (23.5), which integrates diverse information in silico, was above 20, a commonly used threshold to predict deleteriousness (CADD v1.6).
Last Updated: 05 Dec 2022
References
Paper Citations
- Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M. APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. Int J Mol Sci. 2022 May 21;23(10) PubMed.
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M. APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. Int J Mol Sci. 2022 May 21;23(10) PubMed.
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