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Article

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

FEBS letters - 18 Jun 1990

Aulak K S, Cicardi M, Harrison R A

Abstract excerpt

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.

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Source

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.PMID 2365061Read ↗

A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).Semantic proximity Read ↗

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Newly found C1 inhibitor gene mutation in hereditary angioedema patients.Semantic proximity Read ↗

Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.Semantic proximity Read ↗

Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 geneSemantic proximity Read ↗

De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema.Semantic proximity Read ↗

A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene.Semantic proximity Read ↗

Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.Semantic proximity Read ↗

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Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.Semantic proximity Read ↗

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