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.

    Features

This website allows you to search flexibly for F7 variant data and display them in many different ways. In order to help interpret their significance in real-life cases, we provide additional information such as amino-acid alignments and structural predictions (to assist in estimating 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.

Simple Amino Acid Search

HGVS
Legacy

Exon and Intron based search

Exon
Intron

    Nomenclature: 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.


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    Latest Release- Version 5.0 (August 2017)  

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