EAHAD DBs Latest: Mar 2022 - F7 Database Updated to End 2021

See Citing Us (below) for information on our 2020 publications describing the general EAHAD-DB programme, and the EAHAD F7 coagulation factor DB.

F11 Variants and DB Features

Variants in the gene (F11) that codes for coagulation factor XI (FXI) may be associated with rare FXI deficiency and bleeding. There are currently 403 unique variants in the F11 gene compiled within this database corresponding to 1275 individual 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 a more detailed feature description.

Simple FXI Amino Acid Search


F11 Exon and Intron based search


Reference Sequences and Nomenclature (HGVS and Legacy)

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.

Protein Structure Representations

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).

Have you or someone you know been diagnosed with Factor XI deficiency?


Citing Us

Latest Release- Version 1.1 (July 2021)

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