Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
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)
| Title : Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism - Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| Author(s) : Siffo S , Adrover E , Citterio CE , Miras MB , Balbi VA , Chiesa A , Weill J , Sobrero G , Gonzalez VG , Papendieck P , Martinez EB , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 473 :1 , 2018 |
| Abstract : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| ESTHER : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| Gene_locus related to this paper: human-TG |
| Title : Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis - Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| Author(s) : 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 |
| Abstract : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| ESTHER : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedSearch : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedID: 19837936 |
| Gene_locus related to this paper: human-TG |