EAHAD DBs Latest: Mar 2022 - F7 Database Updated to End 2021
40 new publications covering 2015-2021 have been added, with over 50 new unique variants and over 300 new individual cases.
See Citing Us (below) for information on our recent papers on the EAHAD F7 coagulation factor DB 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
271
unique variants in the F7 gene compiled within this database corresponding to
1058
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.
Simple FVII Amino Acid Search
F7 Exon and Intron based search
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 8.0 (March 2022)
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