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.C1264R Cys1264Arg c.3790T>C (p.C1245R Cys1245Arg without 19-amino-acid signal peptide). Hishinuma et al. (2006) stated that based on a renumbering of the TG gene sequence, the mutation originally referred to as Cys1263Arg (C1263R) had been changed to CYS1245ARG (C1245R).
| Title : Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity - Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| Author(s) : Kanou Y , Hishinuma A , Tsunekawa K , Seki K , Mizuno Y , Fujisawa H , Imai T , Miura Y , Nagasaka T , Yamada C , Ieiri T , Murakami M , Murata Y |
| Ref : J Clinical Endocrinology Metab , 92 :1451 , 2007 |
| Abstract : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| ESTHER : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| PubMedSearch : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| PubMedID: 17244789 |
| 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 |
| Title : High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations - Hishinuma_2005_Thyroid_15_1079 |
| Author(s) : Hishinuma A , Fukata S , Kakudo K , Murata Y , Ieiri T |
| Ref : Thyroid , 15 :1079 , 2005 |
| Abstract : Hishinuma_2005_Thyroid_15_1079 |
| ESTHER : Hishinuma_2005_Thyroid_15_1079 |
| PubMedSearch : Hishinuma_2005_Thyroid_15_1079 |
| PubMedID: 16187918 |
| Title : Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism - Baryshev_2004_J.Mol.Endocrinol_32_903 |
| Author(s) : Baryshev M , Sargsyan E , Wallin G , Lejnieks A , Furudate S , Hishinuma A , Mkrtchian S |
| Ref : J Mol Endocrinol , 32 :903 , 2004 |
| Abstract : Baryshev_2004_J.Mol.Endocrinol_32_903 |
| ESTHER : Baryshev_2004_J.Mol.Endocrinol_32_903 |
| PubMedSearch : Baryshev_2004_J.Mol.Endocrinol_32_903 |
| PubMedID: 15171721 |
| 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 : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| ESTHER : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedSearch : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedID: 10199792 |