Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Watanabe_2018_BMC.Med.Genet_19_69
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 154
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.G2341S Gly2341Ser c.7021G>A (p.G2322S Gly2322Ser without 19-aminoacid signal peptide) l homozygous missense mutation
| 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 : A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report - Watanabe_2018_BMC.Med.Genet_19_69 |
| Author(s) : Watanabe Y , Sharwood E , Goodwin B , Creech MK , Hassan HY , Netea MG , Jaeger M , Dumitrescu A , Refetoff S , Huynh T , Weiss RE |
| Ref : BMC Med Genet , 19 :69 , 2018 |
| Abstract : Watanabe_2018_BMC.Med.Genet_19_69 |
| ESTHER : Watanabe_2018_BMC.Med.Genet_19_69 |
| PubMedSearch : Watanabe_2018_BMC.Med.Genet_19_69 |
| PubMedID: 29720101 |
| Gene_locus related to this paper: human-TG |