Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: Q630X_human-TG

Q630X_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Q630X Gln630Ter c.1901G>A (p.Q611X Gln611Ter without 19-aminoacid signal peptide) homozygote exon9
    Kinetic parameters|none


    References:
      Title: Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism
      Cangul H, Boelaert K, Dogan M, Saglam Y, Kendall M, Barrett TG, Maher ER
      Ref: Endocrine, 45:206, 2014 : PubMed

              




    Send your questions or comments to :
    Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
    For technical information about these pages see:
    ESTHER Home Page and ACEDB Home Page
    AcePerl Lincoln Stein Home Page
    webmaster

    Acknowledgements and disclaimer