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Updated: Jul 25, 2026
13:08
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
The EAHAD blood coagulation factor VII variant database
Muriel Giansily-Blaizot1, Pavithra M Rallapalli2, Stephen J Perkins2
1Hematologie Biologique, CHU Montpellier, University of Montpellier, Montpellier, France.
Human Mutation
|April 26, 2020
Summary
A new database integrates genetic variants for coagulation factor VII (FVII) deficiency, aiding pathogenicity assessment. This resource aids understanding of rare bleeding disorders caused by F7 gene variants.
Area of Science:
- Genetics
- Hematology
- Bioinformatics
Background:
- Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder.
- Variants in the F7 gene cause FVII deficiency, impacting blood clotting.
- Interpreting the pathogenicity of novel F7 variants requires integrating genetic data with functional consequences.
Purpose of the Study:
- To create a unified, curated database of F7 gene variants by integrating previous locus-specific databases.
- To enhance the assessment of variant pathogenicity by providing in silico analyses, cross-species alignments, structural information, and functional/clinical data.
- To share comprehensive variant data with the F7 Leiden Open Variation Database.
Main Methods:
- Integration of existing locus-specific databases for the F7 gene.
- Development of a curated database with enhanced features for variant information.
- Inclusion of in silico analyses, cross-species sequence alignments, and structural/functional/clinical data for each variant.
Main Results:
- The updated database contains 221 unique F7 variants from 728 individuals.
- Single nucleotide variants (88%) are most common, with missense variants (74%) predominating.
- Some non-pathogenic variants with high minor allele frequencies significantly influence the pathogenicity assessment of coinherited variants due to their effect on FVII levels.
Conclusions:
- The comprehensive, curated F7 variant database significantly aids in assessing variant pathogenicity.
- This integrated resource facilitates a better understanding of FVII deficiency and its genetic basis.
- The database serves as a valuable tool for researchers and clinicians studying rare bleeding disorders.
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