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 journal › Article

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

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Missense Mutation
Protein C

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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Hallam, P. J., Wacey, A. I., Mannucci, P. M., Legnani, C., Kühnau, W., Krawczak, M., ... Cooper, D. N. (1995). A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C. Human Genetics, 95(4), 447-450. https://doi.org/10.1007/BF00208974

A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C. / Hallam, Paula J.; Wacey, Adam I.; Mannucci, Pier M.; Legnani, Cristina; Kühnau, Wolfgang; Krawczak, Michael; Kakkar, Vijay V.; Cooper, David N.

In: Human Genetics, Vol. 95, No. 4, 04.1995, p. 447-450.

Research output: Contribution to journal › Article

Hallam, PJ, Wacey, AI, Mannucci, PM, Legnani, C, Kühnau, W, Krawczak, M, Kakkar, VV & Cooper, DN 1995, 'A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C', Human Genetics, vol. 95, no. 4, pp. 447-450. https://doi.org/10.1007/BF00208974
Hallam PJ, Wacey AI, Mannucci PM, Legnani C, Kühnau W, Krawczak M et al. A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C. Human Genetics. 1995 Apr;95(4):447-450. https://doi.org/10.1007/BF00208974
Hallam, Paula J. ; Wacey, Adam I. ; Mannucci, Pier M. ; Legnani, Cristina ; Kühnau, Wolfgang ; Krawczak, Michael ; Kakkar, Vijay V. ; Cooper, David N. / A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C. In: Human Genetics. 1995 ; Vol. 95, No. 4. pp. 447-450.
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