title: A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
abstract: A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).
authors.affiliation: Clinica Medica V, Universita di Milano, Ospedale S. Paolo, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Frangi
authors.forename: K S
authors.initials: KS
authors.lastname: Aulak
authors.forename: M
authors.initials: M
authors.lastname: Cicardi
authors.forename: R A
authors.initials: RA
authors.lastname: Harrison
authors.forename: A E
authors.initials: AE
authors.lastname: Davis
mesh_terms: D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001120:Arginine; D001665:Binding Sites / Q000235:genetics; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D006801:Humans; D007930:Leucine; D008969:Molecular Sequence Data; D009154:Mutation; D010446:Peptide Fragments / Q000235:genetics; D016133:Polymerase Chain Reaction; D015843:Serpins / Q000235:genetics*; D013329:Structure-Activity Relationship
chemical_list: D003174:Complement C1 Inactivator Proteins; D010446:Peptide Fragments; D015843:Serpins; D001120:Arginine; D007930:Leucine