Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site.

doi:10.1016/0014-5793(90)81057-u

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Article

Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site.

FEBS letters - 29 Oct 1990

Daly M, Bruce D, Perry D J, Price J, Harper P L, O'Meara A, Carrell R W

Abstract excerpt

Antithrombin Dublin is an electrophoretically fast variant of antithrombin which has normal heparin affinity. Direct sequencing of amplified exon 2 revealed a Val----Glu substitution at position -3. N-terminal sequencing of antithrombin from two individuals, heterozygous for the Dublin mutation, showed the presence of a truncated antithrombin in which the N-terminal dipeptide is absent. We propose that the...

Topics

Adult
Amino Acid Sequence
Antithrombin III
Base Sequence
Endopeptidases
Exons
Gene Amplification
Genetic Carrier Screening
Genetic Variation
Glutamates
Glutamic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Membrane Proteins

Molecular Sequence Data

Oligonucleotide Probes

Reference Values

Serine Endopeptidases

Source

Open in PubMed

Identifiers

PMID: 1977621
DOI: 10.1016/0014-5793(90)81057-u

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1977621-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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