RGD Reference Report - Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). - Rat Genome Database

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Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

Authors: Marchetti, G  Patracchini, P  Gemmati, D  DeRosa, V  Pinotti, M  Rodorigo, G  Casonato, A  Girolami, A  Bernardi, F 
Citation: Marchetti G, etal., Hum Genet. 1992 Jul;89(5):497-502.
RGD ID: 1601133
Pubmed: PMID:1634227   (View Abstract at PubMed)

The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products. Molecules displaying an altered melting behaviour were detected in three subjects, and direct sequencing showed two mutations. A G-to-T transversion causing a missense mutation, Cys-310 to Phe, suppresses a disulphide bond conserved in the catalytic domain of all serine proteases. This mutation, which in the homozygous form causes a severe reduction in protease activity (4%), was found in two patients from different Italian regions. A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease. Two polymorphic alleles, which differ in one repeat monomer element, were precisely mapped in a region spanning the exon-intron 7 border of the factor VII gene and studied in families with factor VII or X deficiency.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
factor VII deficiency  ISOF7 (Homo sapiens)1601133; 1601133DNA:missense:R304Q and C310FRGD 
factor VII deficiency  IAGP 1601133DNA:missense:R304Q and C310FRGD 

Objects Annotated

Genes (Rattus norvegicus)
F7  (coagulation factor VII)

Genes (Mus musculus)
F7  (coagulation factor VII)

Genes (Homo sapiens)
F7  (coagulation factor VII)


Additional Information