Latest News: October 2021 - New F11 DB Online

This is in addition to our new F5 and F10 DBs (see links at foot of page). Also 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.

F11 Variants at LOVD

The basic F11 case and variant data in this database will be mirrored at LOVD: go here for F11 at LOVD.

Simple FXI Amino Acid Search

HGVS
Legacy

F11 Exon and Intron based search

Exon
Intron
 

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

We intend to present additional FX/FXa protein structural visualisations to assist in interpretation of missense mutations (posted 1 September 2021).


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


Acknowledgements


Citing Us


Latest Release- Version 1.1 (July 2021)


Links to the other EAHAD-DB Databases

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