Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Congenital goiter with hypothyroidism Natural mutation congenital hypothyroidism with goitre Kitanaka_2006_J.Hum.Genet_51_379
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 149
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.R2336Q Arg2336Gln c.7007G>A (p.R2317Q Arg2317Gln without 19-amino-acid signal peptide) Found in compound heterozygote with C1897Y(C1878Y) Cys1897Tyr(Cys1878Tyr) Exon 40. Siffo et al. p.R432X\/p.A2343P, p.Y107X\/p.R2317Q
| 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 : |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital hypothyroidism mutations affect common folding and trafficking in the alpha\/beta-hydrolase fold proteins - De Jaco_2012_Febs.J_279_4293 |
| Author(s) : De Jaco A , Dubi N , Camp S , Taylor P |
| Ref : Febs J , 279 :4293 , 2012 |
| Abstract : |
| PubMedSearch : De Jaco_2012_Febs.J_279_4293 |
| PubMedID: 23035660 |
| Gene_locus related to this paper: human-TG |
| Title : A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels - Kitanaka_2006_J.Hum.Genet_51_379 |
| Author(s) : Kitanaka S , Takeda A , Sato U , Miki Y , Hishinuma A , Ieiri T , Igarashi T |
| Ref : J Hum Genet , 51 :379 , 2006 |
| Abstract : |
| PubMedSearch : Kitanaka_2006_J.Hum.Genet_51_379 |
| PubMedID: 16477365 |
| Title : Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan - Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| Author(s) : Hishinuma A , Fukata S , Nishiyama S , Nishi Y , Oh-Ishi M , Murata Y , Ohyama Y , Matsuura N , Kasai K , Harada S , Kitanaka S , Takamatsu J , Kiwaki K , Ohye H , Uruno T , Tomoda C , Tajima T , Kuma K , Miyauchi A , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 91 :3100 , 2006 |
| Abstract : |
| PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedID: 16720658 |