L2283P_mouse-thyro

General

Gene Locus : mouse-thyro

Mode of mutation : Natural mutant

Disease :

Summary : Congenital goiter with hypothyroidism Natural mutation Causes congenital goiter with hypothyroidism in the cog\/cog mouse Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Congenital goiter with hypothyroidism || Intracellular retention

Torpedo_number : 97

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acids signal peptide)

References (3)

Title : Congenital hypothyroidism mutations affect common folding and trafficking in the alpha\/beta-hydrolase fold proteins - De Jaco_2012_Febs.J_279_4293
Author(s) : De Jaco A , Dubi N , Camp S , Taylor P
Ref : Febs J , 279 :4293 , 2012
Abstract :
PubMedSearch : De Jaco_2012_Febs.J_279_4293
PubMedID: 23035660
Gene_locus related to this paper: human-TG

Title : The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin - Park_2004_J.Biol.Chem_279_17085
Author(s) : Park YN , Arvan P
Ref : Journal of Biological Chemistry , 279 :17085 , 2004
Abstract :
PubMedSearch : Park_2004_J.Biol.Chem_279_17085
PubMedID: 14764582
Gene_locus related to this paper: human-TG

Title : A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog\/cog mouse: a model of human endoplasmic reticulum storage diseases - Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
Author(s) : Kim PS , Hossain SA , Park YN , Lee I , Yoo SE , Arvan P
Ref : Proc Natl Acad Sci U S A , 95 :9909 , 1998
Abstract :
PubMedSearch : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
PubMedID: 9707574
Gene_locus related to this paper: mouse-thyro