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

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

doi:10.1097/00001721-199304000-00014

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

Blood Coagul Fibrinolysis. 1993 Apr;4(2):345-7. doi: 10.1097/00001721-199304000-00014.

Authors

D S Millar¹, C B Grundy, P Bignell, E H Moffat, R Martin, V V Kakkar, D N Cooper

Affiliation

¹ Charter Molecular Genetics Laboratory, Chelsea, London, UK.

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

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

1-Carboxyglutamic Acid / chemistry
Arginine
Base Sequence
Conserved Sequence
Humans
Molecular Sequence Data
Mutation*
Pedigree
Protein C / genetics*
Protein C Deficiency*
Recurrence
Thrombosis / etiology
Thrombosis / genetics*
Tryptophan

Substances

Protein C
1-Carboxyglutamic Acid
Tryptophan
Arginine