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 (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).
Frangi
D
D
Clinica Medica V, Universita di Milano, Ospedale S. Paolo, Italy.
Aulak
K S
KS
Cicardi
M
M
Harrison
R A
RA
Davis
A E
AE
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
D003174:Complement C1 Inactivator Proteins; D010446:Peptide Fragments; D015843:Serpins; D001120:Arginine; D007930:Leucine