title: A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.
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.
authors.affiliation: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Hallam
authors.forename: A I
authors.initials: AI
authors.lastname: Wacey
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
authors.forename: C
authors.initials: C
authors.lastname: Legnani
authors.forename: W
authors.initials: W
authors.lastname: Kühnau
authors.forename: M
authors.initials: M
authors.lastname: Krawczak
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004789:Enzyme Activation; D005260:Female; D006801:Humans; D007532:Isoleucine; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011486:Protein C / Q000737:chemistry / Q000235:genetics*; D020151:Protein C Deficiency; D017510:Protein Folding; D013912:Threonine
chemical_list: D011486:Protein C; D007532:Isoleucine; D013912:Threonine