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

FEBS Lett. 1992 Apr 13;301(1):34-6. doi: 10.1016/0014-5793(92)80204-t.


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).

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Angioedema / genetics*
  • Arginine
  • Binding Sites / genetics
  • Complement C1 Inactivator Proteins / genetics*
  • Humans
  • Leucine
  • Molecular Sequence Data
  • Mutation
  • Peptide Fragments / genetics
  • Polymerase Chain Reaction
  • Serpins / genetics*
  • Structure-Activity Relationship


  • Complement C1 Inactivator Proteins
  • Peptide Fragments
  • Serpins
  • Arginine
  • Leucine