FH aHUS Mutation Database ©
New Mutation
  • Analyse any theoretical missense mutation in either FH, FI or MCP here.
  • Enter phenotypic information for an in depth analysis.
  • Please remember to enter any new mutation/patient data into the database to keep the resource complete. To submit new mutations click the 'Submit' button in the left side menu.
    • Choose Protein:
    Enter Amino Acid Codon No:
    Choose mutated residue:
    Amount of Protein in Patient Serum (Optional):
    Genotype of Patient (Optional):
  • Amino acids residues are numbered arrording to HGVS guidelines, where +1 corresponds to the initiating Met residue of the signal peptide.

  • There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with HUS patients within this database.
    There are also 5 mutations within FH that are associated with MPGN patients.

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