C2000W_human-TG

General

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.C2000W Cys2000Trp c.6000C>G (p.C1981W Cys1981Trp without 19-amino-acid signal peptide)

References (1)

Title : New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_365_277
Author(s) : Citterio CE , Machiavelli GA , Miras MB , Gruneiro-Papendieck L , Lachlan K , Sobrero G , Chiesa A , Walker J , Munoz L , Testa G , Belforte FS , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM
Ref : Mol Cell Endocrinol , 365 :277 , 2013
Abstract : Citterio_2013_Mol.Cell.Endocrinol_365_277
ESTHER : Citterio_2013_Mol.Cell.Endocrinol_365_277
PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_365_277
PubMedID: 23164529
Gene_locus related to this paper: human-TG