L144P_ratno-3neur

General

Gene Locus : ratno-3neur

Mode of mutation : Site directed mutagenesis

Disease :

Summary : Intracellular retention Site directed mutagenesis De Jaco_2012_Febs.J_279_4293

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Intracellular retention

Torpedo_number : 97

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.L99P Leu99Pro homologous mutation in rat Neuroligin 3 (NLGN3) corresponding to the natural mutation giving congenital goiter with hypothyroidism in the cog\/cog mouse p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acid signal peptide) Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909

References (1)

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