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Article

Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.

The Journal of biological chemistry - 5 Apr 1990

Emi M, Wilson D E, Iverius P H, Wu L, Hata A, Hegele R, Williams R R, Lalouel J M

Abstract excerpt

Cloning and sequencing of lipoprotein lipase (LPL) cDNA prepared from the adipose tissue of a patient with classical LPL deficiency revealed a G to A transition at nucleotide 818 in all sequenced clones, leading to the substitution of glutamic acid for glycine at residue 188 of the mature protein...

Topics

Adipose Tissue
Adult
Amino Acid Sequence
Base Sequence
Cell Line
Cloning, Molecular
DNA
Female
Glutamates
Glutamic Acid
Glycine
Heparin
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Lipoprotein Lipase

Molecular Sequence Data

Mutation

Nucleic Acid Hybridization

Source

Identifiers

PMID: 1969408

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1969408-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.PMID 1969408Read ↗

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

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.Semantic proximity Read ↗

A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).Semantic proximity Read ↗

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.Semantic proximity Read ↗

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Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6Semantic proximity Read ↗

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