Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Congenital goiter with hypothyroidism Natural mutation congenital hypothyroidism with goitre Kitanaka_2006_J.Hum.Genet_51_379
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.C1897Y Cys1897Tyr c.5690G>A (p.C1878Y Cys1878Tyr without 19-amino-acid signal peptide) Found in compound heterozygote with R2336Q(R2317Q) Arg2336Gln(Arg2317Gln)
| Title : A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels - Kitanaka_2006_J.Hum.Genet_51_379 |
| Author(s) : Kitanaka S , Takeda A , Sato U , Miki Y , Hishinuma A , Ieiri T , Igarashi T |
| Ref : J Hum Genet , 51 :379 , 2006 |
| Abstract : Kitanaka_2006_J.Hum.Genet_51_379 |
| ESTHER : Kitanaka_2006_J.Hum.Genet_51_379 |
| PubMedSearch : Kitanaka_2006_J.Hum.Genet_51_379 |
| PubMedID: 16477365 |
| Title : Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan - Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| Author(s) : Hishinuma A , Fukata S , Nishiyama S , Nishi Y , Oh-Ishi M , Murata Y , Ohyama Y , Matsuura N , Kasai K , Harada S , Kitanaka S , Takamatsu J , Kiwaki K , Ohye H , Uruno T , Tomoda C , Tajima T , Kuma K , Miyauchi A , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 91 :3100 , 2006 |
| Abstract : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| ESTHER : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedID: 16720658 |