Identification of a new P1 residue mutation (444Arg→Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma
- 18 June 1990
- journal article
- case report
- Published by Wiley in FEBS Letters
- Vol. 266 (1-2), 13-16
- https://doi.org/10.1016/0014-5793(90)81494-9
Abstract
A new reactive-centre P1 residue mutation (444Arg→Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC→AGC), and represents the first non-histidine, non-cysteine P1 residue mutant described for C1 inhibitor.This publication has 28 references indexed in Scilit:
- C1 Inhibitor and Hereditary Angioneurotic EdemaAnnual Review of Immunology, 1988
- Antithrombin III Glasgow: a variant with increased heparin affinity and reduced ability to inactivate thrombin, associated with familial thrombosisBritish Journal of Haematology, 1987
- Alpha-1-antitrypsin-Pittsburgh. A potent inhibitor of human plasma factor XIa, kallikrein, and factor XIIf.JCI Insight, 1986
- Inactivation of factor XII active fragment in normal plasma. Predominant role of C-1-inhibitor.JCI Insight, 1984
- Inactivation of kallikrein in human plasma.JCI Insight, 1983
- Contribution of Plasma Protease Inhibitors to the Inactivation of Kallikrein in PlasmaJCI Insight, 1982
- Interaction of 125I‐labelled complement subcomponents Cr and Cs with protease inhibitors in plasmaFEBS Letters, 1979
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970
- Hereditary Angioneurotic Edema: Two Genetic VariantsScience, 1965
- Hereditary angioneurotic edema: II. Deficiency of inhibitor for serum globulin permeability factor and/or plasma kallikreinJournal of Allergy, 1962