A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444→Leu)

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...

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Veröffentlicht in:	FEBS letters 1992-04, Vol.301 (1), p.34-36
Hauptverfasser:	FRANGI, D, AULAK, K. S, CICARDI, M, HARRISON, R. A, DAVIS, A. E
Format:	Artikel
Sprache:	eng
Schlagworte:	Allergic diseases Amino Acid Sequence Angioedema - genetics Arginine Binding Sites - genetics Biological and medical sciences C1 INH Complement C1 Inactivator Proteins - genetics Humans Immunopathology inhibitors Leucine Medical sciences Molecular Sequence Data mutants Mutation Peptide Fragments - genetics Polymerase Chain Reaction proteinase Pseudomonas aeruginosa Serpins - genetics Skin allergic diseases. Stinging insect allergies Structure-Activity Relationship
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Beschreibung
Zusammenfassung:	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).
ISSN:	0014-5793 1873-3468
DOI:	10.1016/0014-5793(92)80204-T