C1264R_human-TG

General

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).

References (5)

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 :
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 :
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 :
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 :
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 :
PubMedSearch : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438
PubMedID: 10199792