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.S734A Ser734Ala (p.S715A Ser715Ala without 19-aminoacid signal peptide) autoimmune thyroid disease (AITD)
| Title : Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease - Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| Author(s) : Ban Y , Greenberg DA , Concepcion E , Skrabanek L , Villanueva R , Tomer Y |
| Ref : Proc Natl Acad Sci U S A , 100 :15119 , 2003 |
| Abstract : |
| PubMedSearch : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| PubMedID: 14657345 |
| Gene_locus related to this paper: human-TG |
| Title : Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter - Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| Author(s) : Hishinuma A , Takamatsu J , Ohyama Y , Yokozawa T , Kanno Y , Kuma K , Yoshida S , Matsuura N , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 84 :1438 , 1999 |
| Abstract : |
| PubMedSearch : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedID: 10199792 |
| Title : Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and exonization during evolution - Parma_1987_J.Mol.Biol_196_769 |
| Author(s) : Parma J , Christophe D , Pohl V , Vassart G |
| Ref : Journal of Molecular Biology , 196 :769 , 1987 |
| Abstract : |
| PubMedSearch : Parma_1987_J.Mol.Biol_196_769 |
| PubMedID: 3681978 |
| Gene_locus related to this paper: bovin-thyro , human-TG |