EAHAD DBs Latest: Mar 2022 - F7 Database Updated to End 2021
See Citing Us (below) for links to our recent EAHAD-DB publications.
F10 Variants and DB Features
Variants in the gene (F10) that codes for coagulation factor X (FX) may be associated with rare FX deficiency and bleeding. There are currently
181 unique variants in the F10 gene compiled within this database corresponding to
631 individual cases from 385 different families. Approximately half the cases are single reports, the remainder taken from 97 families with multiple described cases.
In order to help interpret their significance in real-life cases, we provide amino-acid alignments (to assist in estimating the effects of missense variants).
Read the Help Page for more details.
Simple FX Amino Acid Search
F10 Exon and Intron based search
Reference Sequences and Nomenclature (HGVS and Legacy)
The reference sequence used for FX protein is NP_000495.1 and its corresponding stable Locus Reference Genomic DNA sequence (LRG) is LRG_548. 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 40-residue signal peptide/propeptide (this is -40 in Legacy numbering). In Legacy numbering, codon +1 refers to that coding for the first amino-acid of the mature FX protein (in HGVS numbering, this is codon +41). HGVS numbering is recommended, however Legacy numbering is sometimes used in earlier FX publications.
Protein Structure Representations
All structural analysis of the missense variants presented within this database uses the full length
human FXa structure model kindly provided by Dr Divi Venkateswarlu, Department of Chemistry, N Carolina Agricultural & Technical State University, USA. (Venkateswarlu et al, Biophys J 2002 Vol 82: 1190-1206
PMID No 11867437). EAHAD-DB are most grateful for provision of this model.
Construction of the human FXa model included crystal data on human FXa EGF2-SP (PDB file 1XKA) from Kamata et al (PNAS USA (1995) 95: 6630); and human FVIIa Gla-EGF1 (PDB file 1DAN) from Banner et al (Nature (1996) 80: 41-46).
Have you or someone you know been diagnosed with Factor X deficiency?
The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals.
Here are a couple of links for information on FX deficiency:
This work was supported through a medical educational grant from European Association for Haemophilia and Allied Disorders (EAHAD).
We acknowledge the work of the following individuals and organisations listed here.
Citing Us
Recent publication on the EAHAD Coagulation Factor Databases Project (March 2020):
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.
McVey JH, Rallapalli PM, Kemball-Cook G, Hampshire DJ, Giansily-Blaizot M, Gomez K, Perkins SJ, Ludlam CA.
Access here: Haemophilia. 2020 Mar;26(2):306-313. doi: 10.1111/hae.13947.
Recent Publication on the EAHAD F7 Database (April 2020):
The EAHAD blood coagulation factor VII variant database. Muriel Giansily-Blaizot, Pavithra M. Rallapalli, Stephen J. Perkins, Geoffrey Kemball-Cook, Daniel J. Hampshire, Keith Gomez, Christopher A. Ludlam and John H. McVey.
Access here: Human Mutation. 2020 dx.doi.org/10.1002/humu.24025.
Latest Release- Version 1.1 (June 2021)
This website is under development. If you find any broken features or have any suggestions please email us at f10-db@eahad.org
The information contained on this web site is provided for research purposes only. All information and content on this web site are protected by copyright. All rights are reserved.
