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Mutation Report for: A2234D_human-TG

Mode of mutation|Natural mutant
Amino Acid change|A2215D
Torpedo number|36
Comment|p.A2234D Ala2234Asp c.6701C>A (p.A2215D Ala2215Asp without 19-amino-acid signal peptide)
Kinetic parameters|none

    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


    Title: Congenital hypothyroidism mutations affect common folding and trafficking in the alpha/beta-hydrolase fold proteins
    De Jaco A, Dubi N, Camp S, Taylor P
    Ref: Febs J, 279:4293, 2012 : PubMed


    Title: Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7
    Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruneiro-Papendieck L, Chiesa A, Gonzalez-Sarmiento R, Targovnik HM
    Ref: Clinical Endocrinology (Oxf), 72:112, 2010 : PubMed


    Title: The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation
    Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 94:2938, 2009 : PubMed


    Title: Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
    Pardo V, Rubio IG, Knobel M, Aguiar-Oliveira MH, Santos MM, Gomes SA, Oliveira CR, Targovnik HM, Medeiros-Neto G
    Ref: Thyroid, 18:783, 2008 : PubMed


    Title: Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
    Caputo M, Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Pellizas CG, Gonzalez-Sarmiento R, Targovnik HM
    Ref: Clinical Endocrinology (Oxf), 67:351, 2007 : PubMed


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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.
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