title: A novel point mutation (Val 297-->Met) in the serine proteinase domain of protein C in a patient with both venous and arterial thromboembolic disease.
abstract: A novel heterozygous GTG-->ATG (Val 297-->Met) substitution was detected in an individual with probable inherited protein C deficiency and both venous and arterial thrombotic disease. The lesion occurs in a highly conserved residue within the serine protease domain. In a molecular model of protein C, Met 297 makes unfavourable interactions with neighbouring residues suggesting that the mutant protein is unable to adopt a stable/functional conformation.
authors.affiliation: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: A I
authors.initials: AI
authors.lastname: Wacey
authors.forename: J
authors.initials: J
authors.lastname: Voke
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D000328:Adult; D000941:Antigens / Q000097:blood; D001158:Arteries; D004795:Enzyme Stability; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008958:Models, Molecular; D017354:Point Mutation; D011486:Protein C / Q000737:chemistry / Q000235:genetics* / Q000276:immunology; D020151:Protein C Deficiency; D017434:Protein Structure, Tertiary; D012697:Serine Endopeptidases / Q000737:chemistry*; D013923:Thromboembolism / Q000235:genetics*; D014633:Valine / Q000235:genetics; D014680:Veins
chemical_list: D000941:Antigens; D011486:Protein C; D008715:Methionine; D012697:Serine Endopeptidases; D014633:Valine