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.

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