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.R1979W Arg1979Trp (p.R1960W Arg1960Trp without 19-aminoacid signal peptide) exon 33 SNP autoimmune thyroid disease (AITD) interaction with HLA-DR3 in conferring susceptibility to Graves' disease.
| 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 : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| ESTHER : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| PubMedSearch : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| PubMedID: 14657345 |
| Gene_locus related to this paper: human-TG |