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.R38K Arg38Lys c.113G>A (p.R19K Arg19Lys without 19-aminoacid signal peptide) exon 2 heterozygote
| Title : Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism - Hu_2016_Mol.Cell.Endocrinol_423_60 |
| Author(s) : Hu X , Chen R , Fu C , Fan X , Wang J , Qian J , Yi S , Li C , Luo J , Su J , Zhang S , Xie B , Zheng H , Lai Y , Chen Y , Li H , Gu X , Chen S , Shen Y |
| Ref : Mol Cell Endocrinol , 423 :60 , 2016 |
| Abstract : |
| PubMedSearch : Hu_2016_Mol.Cell.Endocrinol_423_60 |
| PubMedID: 26777470 |
| Gene_locus related to this paper: human-TG |
| Title : Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter - Kim_2008_Mol.Endocrinol_22_477 |
| Author(s) : Kim PS , Lee J , Jongsamak P , Menon S , Li B , Hossain SA , Bae JH , Panijpan B , Arvan P |
| Ref : Mol Endocrinol , 22 :477 , 2008 |
| Abstract : |
| PubMedSearch : Kim_2008_Mol.Endocrinol_22_477 |
| PubMedID: 17916655 |
| Gene_locus related to this paper: human-TG |
| Title : Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism - Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| Author(s) : Vono-Toniolo J , Kopp P |
| Ref : Arq Bras Endocrinol Metabol , 48 :70 , 2004 |
| Abstract : |
| PubMedSearch : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| PubMedID: 15611820 |
| Gene_locus related to this paper: human-TG |