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

A Pl mutation (Arg‐444→Leu) was identified in a dysfunctional Cl 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).