G221R_ratno-3neur

General

Gene Locus : ratno-3neur

Mode of mutation : site directed mutagenesis

Disease :

Summary : Intracellular retention Defect in protein processing De Jaco_2010_J.Biol.Chem_285_28674

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 132

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
This mutation mimics the G2320R mutation of thyroglobulin which causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat. A truncation (stop codon inserted at position 692) was introduced for interaction studies

References (1)

Title : Neuroligin trafficking deficiencies arising from mutations in the alpha\/beta-hydrolase fold protein family - De Jaco_2010_J.Biol.Chem_285_28674
Author(s) : De Jaco A , Lin MZ , Dubi N , Comoletti D , Miller MT , Camp S , Ellisman M , Butko MT , Tsien RY , Taylor P
Ref : Journal of Biological Chemistry , 285 :28674 , 2010
Abstract :
PubMedSearch : De Jaco_2010_J.Biol.Chem_285_28674
PubMedID: 20615874
Gene_locus related to this paper: ratno-3neur , ratno-1neur