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

doi:10.1007/BF00208974

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	447-450
Number of pages	4
Journal	Human Genetics
Volume	95
Issue number	4
DOIs	https://doi.org/10.1007/BF00208974
Publication status	Published - Apr 1995

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1007/BF00208974

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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 › peer-review

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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.",

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AU - Wacey, Adam I.

AU - Mannucci, Pier M.

AU - Legnani, Cristina

AU - Kühnau, Wolfgang

AU - Krawczak, Michael

AU - Kakkar, Vijay V.

AU - Cooper, David N.

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AB - 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.

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

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