A2362P_human-TG

General

Gene Locus : human-TG

Mode of mutation : Natural mutant

Disease : Goiter, familial with hypothyroidism, autosomal recessive

Summary : Mizokami_2019_Intern.Med_58_2669

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 176

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
c.7084G>C p.A2362P Ala2362Pro (p.A2343P Ala2343Pro without 19-aminoacid signal peptide)

References (1)

Title : Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement - Mizokami_2019_Intern.Med_58_2669
Author(s) : Mizokami T , Fukata S , Kogai T , Hishinuma A , Hamada K , Maruta T , Higashi K , Tajiri J
Ref : Intern Med , 58 :2669 , 2019
Abstract :
PubMedSearch : Mizokami_2019_Intern.Med_58_2669
PubMedID: 31178475
Gene_locus related to this paper: human-TG