EAHAD Databases Latest News: Oct 2021 - New F11 DB Launched

Joins new F5 and F10 DBs: at f5-db.eahad.org and f10-db.eahad.org

See Citing Us (below) for information on our recent publications describing the EAHAD F7 coagulation factor database and the EAHAD-DB programme.

F7 Variants and DB Features

Factor VII deficiency is caused by variants in the gene (F7 ) that codes for coagulation factor VII. There are currently 221 unique variants in the F7 gene compiled within this database corresponding to 728 individual cases. You can search and display F7 variant data in many different ways. In order to help interpret their significance in real-life cases, we provide 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. We recommend you read the Support/Help Page which has a more detailed feature description.

F7 Variants at Leiden Open Variant Database (LOVD)

The basic F7 case data in this database are mirrored at LOVD: go here for F7 at LOVD.

Simple FVII Amino Acid Search

HGVS
Legacy

F7 Exon and Intron based search

Exon
Intron

Reference Sequences and Nomenclature (HGVS and Legacy)

The reference sequence used for FVII protein is NP_000122.1 and its corresponding stable Locus Reference Genomic DNA sequence (LRG) is LRG_554. Codons and amino-acids are numbered on this site in two ways. In Human Genome Variant Society (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 FVII 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


Citing Us


Latest Release- Version 7.0 (March 2021)


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