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PMID: 3178731 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.

The Biochemical journal ·Vol. 253 ·No. 2 ·1988-07-15 ·Pages 615-8

Aulak KS, Pemberton PA, Rosen FS, Carrell RW, Lachmann PJ, Harrison RA

Abstract

Simple rapid procedures for identification and analysis of dysfunctional C1-inhibitor proteins mutated at the reactive-centre P1 residue have been developed and used to define structurally a C1-inhibitor protein, C1-inhibitor(At), isolated from an individual with hereditary angio-oedema. The observed mutation, Arg444----His, is compatible with a single base change in the codon used for Arg444 in the native protein.

MeSH Terms
Amino Acid Sequence Angioedema/blood,genetics Binding Sites Chromatography, High Pressure Liquid Complement C1 Inactivator Proteins Electrophoresis, Polyacrylamide Gel Histidine/analysis Humans Molecular Sequence Data Mutation
Chemicals
Complement C1 Inactivator Proteins Histidine
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Aulak K S
MIP Unit, MRC Centre, Cambridge, U.K.
Pemberton P A
Rosen F S
Carrell R W
Lachmann P J
Harrison R A
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28 references, click to expand
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Article Info
Journal
The Biochemical journal
Abbr.
Biochem J
ISSN
0264-6021
DOI
10.1042/bj2530615
Published
1988-07-15
Pages
615-8
Language
English
Region
England
NLM ID
2984726R
PMCID
PMC1149343
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1042/bj2530615 PMC Full Text View journal details
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