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.R2585W Arg2585Trp c.8119C>T (p.R2566W Arg2566Trp without 19-aminoacid signal peptide) exon 44 heterozygote. Found in compound heterozygote with T1111R
| 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 : Hu_2016_Mol.Cell.Endocrinol_423_60 |
| ESTHER : Hu_2016_Mol.Cell.Endocrinol_423_60 |
| PubMedSearch : Hu_2016_Mol.Cell.Endocrinol_423_60 |
| PubMedID: 26777470 |
| Gene_locus related to this paper: human-TG |