A novel amino acid substitution (His183-->Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state.

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Article

A novel amino acid substitution (His183-->Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state.

Journal of lipid research - 1 Feb 1994

Tenkanen H, Taskinen M R, Antikainen M, Ulmanen I, Kontula K, Ehnholm C

Abstract excerpt

We have identified a hitherto unrecognized mutation of the lipoprotein lipase gene (LPL) in a Finnish family with Russian and Swiss ancestors. A single base pair substitution of a guanine for cytosine in codon 183 of exon 5 of the LPL gene results in a change of histidine to glutamine in the mature enzyme protein. Expression of a mutant cDNA construct in COS cells resulted in secretion of inactive LPL enzyme...

Topics

Amino Acids
Base Sequence
Cells, Cultured
DNA Mutational Analysis
DNA, Complementary
Exons
Female
Gene Expression
Heterozygote
Humans
Hypertriglyceridemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipids

Lipoprotein Lipase

Lipoproteins

Middle Aged

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 8169525

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8169525-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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