The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.

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Article

The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.

Blood - 1 Nov 1995

Duchemin J, Gandrille S, Borgel D, Feurgard P, Alhenc-Gelas M, Matheron C, Dreyfus M, Dupuy E, Juhan-Vague I, Aiach M

Abstract excerpt

A Ser 460 to Pro mutation of protein S (PS), involving a T to C transition in exon XIII of the protein S alpha (PROS1) gene and known as the Heerlen polymorphism, was found in 16 of 85 symptomatic patients with PS deficiency (18.8%) and only 1 of 113 healthy subjects (0.8%). Another frequent polymorphism was described in exon XV of the PROS1 gene, in the codon for Pro 626 (CCA/CCG). We found that Heerlen...

Topics

Carrier Proteins
Codon
Complement Inactivator Proteins
Female
Gene Frequency
Genes
Genetic Predisposition to Disease
Glycoproteins
Humans
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Polymorphism, Genetic

Protein Binding

Protein S

Protein S Deficiency

Thrombosis

Source

Open in PubMed

Identifiers

PMID: 7579448

Genes

PROS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7579448-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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