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 Caron_2003_J.Clin.Endocrinol.Metab_88_3546
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 44
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.R2242H Arg2242His c.6725G>A (p.R2223H Arg2223His without 19-amino-acid signal peptide).Also found as compound heterozygote withY383TfsX19
| 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 : De Jaco_2012_Febs.J_279_4293 |
| ESTHER : De Jaco_2012_Febs.J_279_4293 |
| PubMedSearch : De Jaco_2012_Febs.J_279_4293 |
| PubMedID: 23035660 |
| Gene_locus related to this paper: human-TG |
| 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_2010_Clin.Endocrinol.(Oxf)_72_112 |
| Author(s) : 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 |
| Abstract : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| ESTHER : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedID: 19438905 |
| Gene_locus related to this paper: human-TG |
| Title : Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma - Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
| Author(s) : Raef H , Al-Rijjal R , Al-Shehri S , Zou M , Al-Mana H , Baitei EY , Parhar RS , Al-Mohanna FA , Shi Y |
| Ref : J Clinical Endocrinology Metab , 95 :1000 , 2010 |
| Abstract : Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
| ESTHER : Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
| PubMedSearch : Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
| PubMedID: 20089614 |
| Gene_locus related to this paper: human-TG |
| Title : Molecular advances in thyroglobulin disorders - Rivolta_2006_Clin.Chim.Acta_374_8 |
| Author(s) : Rivolta CM , Targovnik HM |
| Ref : Clinica Chimica Acta , 374 :8 , 2006 |
| Abstract : Rivolta_2006_Clin.Chim.Acta_374_8 |
| ESTHER : Rivolta_2006_Clin.Chim.Acta_374_8 |
| PubMedSearch : Rivolta_2006_Clin.Chim.Acta_374_8 |
| PubMedID: 16870170 |
| Title : Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism - Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| Author(s) : Caron P , Moya CM , Malet D , Gutnisky VJ , Chabardes B , Rivolta CM , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 88 :3546 , 2003 |
| Abstract : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| ESTHER : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedSearch : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedID: 12915634 |
| Gene_locus related to this paper: human-TG |