Article
A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
FEBS letters - 13 Apr 1992
Frangi D, Aulak K S, Cicardi M, Harrison R A, Davis A E
Abstract excerpt
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...
Topics
- Amino Acid Sequence
- Angioedema
- Arginine
- Binding Sites
- Complement C1 Inactivator Proteins
- Humans
- Leucine
- Molecular Sequence Data
- Mutation
- Peptide Fragments
- Polymerase Chain Reaction
- Serpins
- Structure-Activity Relationship