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Mutation Report for: R451X_human-TG

R451X_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.R451X Arg451Ter c.1351C>T (p.R432X Arg432Ter without 19-aminoacid signal peptide) mutation located in exon 9, substituted an arginine to a stop codon at codon 432 (a 431-amino acid truncated polypeptide)
    Kinetic parameters|none


    References:
      Title: Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
      Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, Gonzalez VG and Targovnik HM <4 more author(s)>
      Ref: Mol Cell Endocrinol, 473:1, 2018 : PubMed

              

      Title: Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
      Niu DM, Hsu JH, Chong KW, Huang CH, Lu YH, Kao CH, Yu HC, Lo MY, Jap TS
      Ref: J Clinical Endocrinology Metab, 94:5045, 2009 : PubMed

              




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