RGD Reference Report - Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution. - Rat Genome Database

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Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution.

Authors: Miyata, T  Kawabata, S  Iwanaga, S  Takahashi, I  Alving, B  Saito, H 
Citation: Miyata T, etal., Proc Natl Acad Sci U S A. 1989 Nov;86(21):8319-22.
RGD ID: 1601107
Pubmed: PMID:2510163   (View Abstract at PubMed)
PMCID: PMC298272   (View Article at PubMed Central)

Structural studies on a congenital abnormal coagulation factor XII (Hageman factor), factor XII Washington D.C., have been performed to identify the defect responsible for its lack of procoagulant activity. Amino acid sequence analysis of a tryptic peptide isolated from the abnormal factor XII indicated that Cys-571 (equivalent to Cys-220 in the chymotrypsin numbering system) had been replaced by serine. No other substitutions in the active-site triad--namely, His-393, Asp-442, and Ser-544--were found. We propose that the Cys-571----Ser replacement found in this factor XII variant destroys the formation of the disulfide linkage between Cys-540 and Cys-571, giving rise to an altered conformation of the active-site serine residue or the secondary substrate-binding site and, thus, leads to the loss of enzyme activity.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F12Humanfactor XII deficiency  IAGP DNA:missense:exon:C571SRGD 
F12Ratfactor XII deficiency  ISOF12 (Homo sapiens)DNA:missense:exon:C571SRGD 
F12Mousefactor XII deficiency  ISOF12 (Homo sapiens)DNA:missense:exon:C571SRGD 

Objects Annotated

Genes (Rattus norvegicus)
F12  (coagulation factor XII)

Genes (Mus musculus)
F12  (coagulation factor XII (Hageman factor))

Genes (Homo sapiens)
F12  (coagulation factor XII)


Additional Information