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Mutation Report for: D1823IfsX29_human-TG

D1823IfsX29_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.D1823IfsX29 Asp1823IlefsX29 c.5466delA (p.K1803fsX1833 Lys1803fsX1833 in publication, p.D1804IfsX29 Asp1804IlefsTer29 without 19-amino-acid signal peptide) the mutation is in Lys codon 1822(1803) but the change is on the following codon, the frameshift gives an extra 29 amino-acids peptide limit of exon28 exon29
    Kinetic parameters|none


    References:
      Title: New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
      Citterio CE, Machiavelli GA, Miras MB, Gruneiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Munoz L and Targovnik HM <4 more author(s)>
      Ref: Mol Cell Endocrinol, 365:277, 2013 : PubMed

              




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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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