A point mutation in the C1-inhibitor gene causes type I hereditary angiooedema.
The polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (CAG-->TAG at nucleotide 16842 in the C1-inhibitor gene in the affected members of a single family with type I C1-inhibitor deficiency. This mutation creates the TAG translation termination codon, thereby truncating the C1-inhibitor C-terminus by 17 amino acids. The effects of the mutation are discussed.
Siddique
Z
Z
Department of Pathology, Western Infirmary, Glasgow, UK.
McPhaden
A R
AR
Fothergill
J E
JE
Whaley
K
K
D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000737:chemistry / Q000235:genetics*; D003198:Computer Simulation; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017434:Protein Structure, Tertiary
D003174:Complement C1 Inactivator Proteins