We maintain websites for genetic variants in the human coagulation factors F7, F8, F9 and F11 as a service for clinicians and biochemists.

    F7 Variants

Factor VII deficiency is caused by variants in the gene that codes for coagulation factor VII. There are currently 221 unique variants in the F7 gene compiled within this database corresponding to 729 individual cases.

    Citing Us  

If you find this website useful, please reference our publications:
Saunders, R. E., O’Connell, N. M., Lee, C. A., Perry, D. J. & Perkins, S. J. (2005) The factor XI deficiency database: an interactive web database of mutations, phenotypes and structural analysis tools. Human Mutation, 26, 192-198. PM:16086308

Giansily-Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball-Cook, G., Hampshire, D. J., Gomez, K., Ludlam, C. A. & McVey, J. H. (2020) The EAHAD Blood Coagulation Factor VII Variant Database. Human Mutation, 41, 1209-1219. PM:32333443

    What can you do in this database?

This website allows you to search flexibly for F7 variant data and display them in many different ways. In order to help interpret their functional significance, we provide additional information such as amino-acid alignments and structural predictions (to estimate the effects of missense variants), together with information on common variants (also often referred to as polymorphisms) of F7. Full referencing where available is given via links to PubMed abstracts. We recommend you read the Support/Help Page which has a more detailed feature description.

For easy navigation across the website, please click for the Site Map.

Simple Amino Acid Search

HGVS
Legacy

Exon and Intron based search

Exon
Intron

    Codon/Amino-acid numbering: HGVS and Legacy  

The reference sequence used for FVII protein is NP_000122.1 and for its corresponding cDNA is NM_000131.4 . Codons and amino-acids are numbered on this site in two ways. In HGVS numbering, codons are numbered with codon +1 coding for the first residue (Met) of the 60-residue signal peptide/propeptide (this is -60 in Legacy numbering). In Legacy numbering, codon +1 refers to that coding for the first amino-acid of the mature FVIII protein (in HGVS numbering, this is codon +61). HGVS numbering is recommended, however Legacy numbering is extensively used in FVII publications, particularly before the year 2000.


    Classification of Clinical Severity of Bleeding  


    Have you or someone you know been diagnosed with Factor VII deficiency?  


    Acknowledgements and Disclaimer  


    Latest Release- Version 2.0 (August 2017)  

The information contained on this web site is provided for research purposes only. All information and content on this web site are protected by UCL copyright. All rights are reserved.

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Factor VII Variant Database