Identification of a new P1 residue mutation (444Ar...[FEBS Lett. 1990]

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1: FEBS Lett. 1990 Jun 18;266(1-2):13-6. Links

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

Aulak KS, Cicardi M, Harrison RA.

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

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.

PMID: 2365061 [PubMed - indexed for MEDLINE]

Rapid and sensitive techniques for identification and analysis of 'reactive-centre' mutants of C1-inhibitor proteins contained in type II hereditary angio-oedema plasmas.
Biochem J. 1990 Nov 1; 271(3):565-9.

[Biochem J. 1990]
Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.
Biochem J. 1988 Jul 15; 253(2):615-8.

[Biochem J. 1988]
A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
FEBS Lett. 1992 Apr 13; 301(1):34-6.

[FEBS Lett. 1992]
ReviewMolecular genetics of C1 inhibitor.
Immunobiology. 1998 Aug; 199(2):358-65.

[Immunobiology. 1998]
ReviewMutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.
Behring Inst Mitt. 1993 Dec; (93):313-20.

[Behring Inst Mitt. 1993]
» See reviews... | » See all...

Cited by 4 PubMed Central articles

A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
Ocejo-Vinyals JG, Leyva-Cobián F, Fernández-Luna JL. Mol Med. 1995 Sep; 1(6):700-5.

[Mol Med. 1995]
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
Zahedi R, Bissler JJ, Davis AE 3rd, Andreadis C, Wisnieski JJ. J Clin Invest. 1995 Mar; 95(3):1299-305.

[J Clin Invest. 1995]
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M. J Clin Invest. 1995 Jan; 95(1):350-9.

[J Clin Invest. 1995]
» See all...

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

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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.

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Cited by 4 PubMed Central articles

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