Literature DB >> 7705844

A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.

P J Hallam1, A I Wacey, P M Mannucci, C Legnani, W Kühnau, M Krawczak, V V Kakkar, D N Cooper.   

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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Year:  1995        PMID： 7705844     DOI： 10.1007/bf00208974

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

1.  A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

Authors:  C B Grundy; M Chisholm; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  The cDNA cloning and mRNA expression of rat protein C.

Authors:  T Okafuji; K Maekawa; K Nawa; Y Marumoto
Journal:  Biochim Biophys Acta       Date:  1992-07-15

3.  A genetic factor model for the statistical analysis of multilocus DNA fingerprints.

Authors:  M Krawczak; B Bockel
Journal:  Electrophoresis       Date:  1992 Jan-Feb       Impact factor: 3.535

4.  Comparative modeling methods: application to the family of the mammalian serine proteases.

Authors:  J Greer
Journal:  Proteins       Date:  1990

5.  Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein.

Authors:  A I Wacey; M Krawczak; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

6.  Improved double-stranded DNA sequencing using the linear polymerase chain reaction.

Authors:  V Murray
Journal:  Nucleic Acids Res       Date:  1989-11-11       Impact factor: 16.971

7.  Evolution and organization of the human protein C gene.

Authors:  J Plutzky; J A Hoskins; G L Long; G R Crabtree
Journal:  Proc Natl Acad Sci U S A       Date:  1986-02       Impact factor: 11.205

8.  A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency.

Authors:  A I Wacey; S Pemberton; D N Cooper; V V Kakkar; E G Tuddenham
Journal:  Br J Haematol       Date:  1993-06       Impact factor: 6.998

9.  Cloning and sequencing of liver cDNA coding for bovine protein C.

Authors:  G L Long; R M Belagaje; R T MacGillivray
Journal:  Proc Natl Acad Sci U S A       Date:  1984-09       Impact factor: 11.205

10.  The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Authors:  P H Reitsma; S R Poort; C F Allaart; E Briët; R M Bertina
Journal:  Blood       Date:  1991-08-15       Impact factor: 22.113
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