HAE type 2-causing SERPING1 variants [extracellular region]

Stable Identifier
R-HSA-9650491
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
2296585 Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene

Levy, NJ, Ramesh, N, Cicardi, M, Harrison, RA, Davis, AE

Proc. Natl. Acad. Sci. U.S.A. 1990
2563376 CpG mutations in the reactive site of human C1 inhibitor

Skriver, K, Radziejewska, E, Silbermann, JA, Donaldson, VH, Bock, SC

J. Biol. Chem. 1989
8798678 Characterization of C1 inhibitor-Ta. A dysfunctional C1INH with deletion of lysine 251

Zahedi, R, Aulak, KS, Eldering, E, Davis, AE

J. Biol. Chem. 1996
12773530 The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant

Bos, IG, Lubbers, YT, Roem, D, Abrahams, JP, Hack, CE, Eldering, E

J. Biol. Chem. 2003
7814636 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, López-Trascasa, M, Späth, P, Meo, T, Tosi, M

J. Clin. Invest. 1995
2026621 Substrate properties of C1 inhibitor Ma (alanine 434----glutamic acid). Genetic and structural evidence suggesting that the P12-region contains critical determinants of serine protease inhibitor/substrate status

Skriver, K, Wikoff, WR, Patston, PA, Tausk, F, Schapira, M, Kaplan, AP, Bock, SC

J. Biol. Chem. 1991
8529136 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
2365061 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

FEBS Lett. 1990
1451784 A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu)

Frangi, D, Aulak, KS, Cicardi, M, Harrison, RA, Davis, AE

FEBS Lett. 1992
Participants
Participant Of
Disease
Name Identifier Synonyms
C1 inhibitor deficiency 0060002 Quincke edema
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