Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma

K S Aulak; M Cicardi; R A Harrison

doi:10.1016/0014-5793(90)81494-9

Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma

FEBS Lett. 1990 Jun 18;266(1-2):13-6. doi: 10.1016/0014-5793(90)81494-9.

Authors

K S Aulak¹, M Cicardi, R A Harrison

Affiliation

¹ MRC Molecular Immunopathology Unit, MRC Centre, Cambridge, UK.

PMID: 2365061
DOI: 10.1016/0014-5793(90)81494-9

Abstract

A new reactive-centre P1 residue mutation (444Arg----Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC), and represents the first non-histidine, non-cysteine P1 residue mutant described for C1 inhibitor.

Publication types

Case Reports

MeSH terms

Amino Acid Sequence
Angioedema / genetics*
Base Sequence
Complement C1 Inactivator Proteins / genetics*
Humans
Molecular Sequence Data
Mutation
Peptide Fragments / analysis
Trypsin

Substances

Complement C1 Inactivator Proteins
Peptide Fragments
Trypsin