Factor XI Gene (F11) Variant Database  

The reference sequence used for FXI protein is NP_000119.1 and its corresponding stable Locus Reference Genomic DNA sequence (LRG) is LRG_583. 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 18-residue signal peptide (this is -18 in Legacy numbering). In Legacy numbering, codon +1 refers to that coding for the first amino-acid of the mature FXI protein (in HGVS numbering, this is codon +19). HGVS numbering is recommended, however Legacy numbering is sometimes used in earlier FXI publications.

All structural analysis of the missense variants presented within this database uses the FXI structure 2F83 taken from the RCSB Protein Data Bank.
Structure 2F83 consists of a dimer of human FXI (Papagrigoriou et al, Nat Struct Mol Biol 2006 Vol 13(6): 557-558 PMID No 16699514).

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 two links for information on FXI deficiency:

This work was supported through a medical educational grant from European Association for Haemophilia and Allied Disorders (EAHAD).
Variant data were collected by Mi Chween Chan. We also acknowledge the work of the following individuals and organisations listed here.

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.

This website is under development. If you find any broken features or have any suggestions please email us at:
f11-db@eahad.org

EAHAD F5 DATABASE: f5-db.eahad.org ***NEW***
EAHAD F7 DATABASE: f7-db.eahad.org
EAHAD F8 DATABASE: f8-db.eahad.org
EAHAD F9 DATABASE: f9-db.eahad.org
EAHAD F10 DATABASE: f10-db.eahad.org ***NEW***
EAHAD F11 DATABASE: f11-db.eahad.org ***NEW***
EAHAD VWF DATABASE: vwf-db.eahad.org