A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C

Paula J. Hallam, Adam I. Wacey, Pier M. Mannucci, Cristina Legnani, Wolfgang Kühnau, Michael Krawczak, Vijay V. Kakkar, David N. Cooper

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the detection of a novel missense mutation (Thr176→Ile) that is located at the neo N-terminus of activated protein C. The Thr176→Ile substitution leads to a type 1 deficiency state. Evidence is presented suggesting that this residue plays a role in pivoting the N-terminus of protein C to fold into the oxyanion hole.

Original languageEnglish
Pages (from-to)447-450
Number of pages4
JournalHuman Genetics
Volume95
Issue number4
DOIs
Publication statusPublished - Apr 1995

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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