Gly319 → Arg substitution in the dysfunctional prothrombin Segovia

Sepideh Akhavan, Eduardo Rocha, Sirous Zeinali, Pier Mannuccio Mannucci

Research output: Contribution to journalArticle

Abstract

The molecular defect of a congenitally dysfunctional form of prothrombin, prothrombin Segovia, was identified in a patient with a severe bleeding tendency, reduced prothrombin coagulant activity, and normal antigen level. Nucleotide sequencing of amplified DNA revealed a G→A change at nucleotide 7539 of exon 9 of the prothrombin gene. This resulted in the substitution of Gly319 by Arg. The proband was homozygous for this mutation, his father and brother were heterozygous. We surmised that the substitution, which occurs near the site of cleavage of prothrombin by factor Xa (Arg320- Ile321), altered the conformation of the protein making the cleavage site inaccessible.

Original languageEnglish
Pages (from-to)667-669
Number of pages3
JournalBritish Journal of Haematology
Volume105
Issue number3
DOIs
Publication statusPublished - 1999

Keywords

  • Congenital bleeding disorders
  • Factor II
  • Prothrombin

ASJC Scopus subject areas

  • Hematology

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