C1897Y_human-TG

General

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)

References (2)

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 :
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 :
PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100
PubMedID: 16720658