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Article

A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 1993

Millar D S, Grundy C B, Bignell P, Moffat E H, Martin R, Kakkar V V, Cooper D N

Abstract excerpt

A heterozygous CGG-->TGG (Arg 15-->Trp) substitution was detected in a family with inherited type II protein C deficiency and recurrent venous thrombosis. The mutation, which co-segregates with the deficiency state, occurs in a conserved pentapeptide within the gamma-carboxyglutamic acid (Gla) domain of the protein.

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Source

Identifiers

PMID: 8499568
DOI: 10.1097/00001721-199304000-00014

Genes

PROC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.PMID 8499568Read ↗

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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.Semantic proximity Read ↗

Molecular basis for protein C hereditary deficiency.Semantic proximity Read ↗

A novel silent substitution (C8516T) in exon 9 of the human PROC gene.Semantic proximity Read ↗

Six different point mutations in seven Danish families with symptomatic protein C deficiency.Semantic proximity Read ↗

Chronic disseminated intravascular coagulation and childhood-onset skin necrosis resulting from homozygosity for a protein C Gla domain mutation, Arg15Trp.Semantic proximity Read ↗

Symptomatic hereditary type-II protein C deficiency caused by a missense mutation in exon IX of the protein C gene (Gly381 to Ser).Semantic proximity Read ↗

Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.Semantic proximity Read ↗

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An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CGG-->GGG). Deteriorated calcium-dependent conformation of the gamma-carboxyglutamic acid domain relevant to a thrombotic tendency.Semantic proximity Read ↗

Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.Semantic proximity Read ↗

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