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    Search the HAE-database


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    > Full list of the mutations in HAEdb <
    > All Gross mutations <
    > All Micro mutations <



    Basic Search


    Search for mutation name

    Enter keyword: Fast search for mutations, according to their denominations. e.g.: 444, Arg444, 444Cys, Arg%Cys, Gln%Stop (% = any character(s), the search is NOT case sensitive)



    Advanced Search


    Gross mutation (more than 1 kilobase)

    type:
    Affected exons: e.g.: 1, 2, 3 (You can use comma)
    size (kB): - size or range in kilobase (use only numbers and "<" or ">", 4< means more than 4)
    owner: Laboratory which described the mutation first
    notes: Notes of the "Gross mutations" subgroup

    Micro mutation

    Nucleotide change: Reference Sequence in NCBI
    Traditional nomenclature (position 1 is the first nucleotide of exon 1)
    theoretical examples: 16788C>T, 13269delA, 5777_5800del24bp, 8456_8460delCGTAG, 13269ins24bp, 15624insCGA
    Nucleotide change: Reference Sequence in NCBI
    HUGO nomenclature (position 1 is the first nucleotide of the reference sequence)
    Nucleotide change: Reference Sequence in NCBI
    CDS nomenclature (position 1 is the first nucleotide of the ATG start codon)
    Position:
    Molecular consequence: Reference seqence in NCBI
    Traditional nomenclature (position 1 is the first residue of the secreted protein) e.g.: Arg444Cys, Arg472Stop, Frameshift, Splicing defect, other (use the 3 digit designation for amino acids)
    Molecular consequence: Reference sequence in NCBI
    Hugo nomenclature (position 1 is the first residue (Met) of the mature protein) e.g.: Arg466Cys, Arg494Stop, fs (use the 3 digit designation for amino acids)
    Effect
    of the mutation:
    All
    Pathogenic
    Unknown
    Polymorphism
    Owner: Laboratory which described the mutation first
    Notes: Notes of the "Micro mutations" subgroup

    By HAE_UID:

    Accession number in this database

    Family history:

    sporadic (negative)
    positive
    unknown
    Positive means more than one affected patient in that family

    By Notes:

    Notes of all mutations (all entries will be found that contain the given word in the "notes" field)

    By Owner:

    Laboratory which described the mutation first