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.Q2016RfsX1 Gln2016ArgfsTer1 c.6047delA (p.Q1997RfsX1 Gln1997ArgfsTer1 without 19-aminoacid signal peptide), located in exon 33, cause a frameshift at codon 2016(1997) that replaced glutamine by arginine at codon 2016(1997) and ran into a stop codon immediately after this altered amino acid residue (arginine)
| Title : Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis - Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| Author(s) : Niu DM , Hsu JH , Chong KW , Huang CH , Lu YH , Kao CH , Yu HC , Lo MY , Jap TS |
| Ref : J Clinical Endocrinology Metab , 94 :5045 , 2009 |
| Abstract : |
| PubMedSearch : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedID: 19837936 |
| Gene_locus related to this paper: human-TG |