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
| 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 : De Jaco_2012_Febs.J_279_4293 |
| ESTHER : De Jaco_2012_Febs.J_279_4293 |
| PubMedSearch : De Jaco_2012_Febs.J_279_4293 |
| PubMedID: 23035660 |
| Gene_locus related to this paper: human-TG |