F XI Deficiency Mutation Database©
Basic Search
  • Mutations can be retrieved by codon number, where codons are numbered with respect to the mature protein - with codon 1 representing the first residue (Glu) after the signal peptide.
  • Mutations spanning each domain can also be retrieved.
  • Enter Codon No:
    OR Choose Domain:
    Include Polymorphisms: YES NO
  • For more complex queries, for example to retrieve mutations over a range of domains and by phenotypic information;
  • There are currently 192 disease causing mutations in the FXI gene compiled within this database corresponding to 487 FXI deficient patients reported in literature.