R471C_ratno-3neur

General

Gene Locus : ratno-3neur

Mode of mutation : site directed mutagenesis

Disease :

Summary : Intracellular retention Defect in protein processing Comoletti_2004_J.Neurosci_24_4889

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 388

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
a truncation (stop codon inserted at position 692) was introduced for interaction studies

References (3)

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

Title : Gene selection, alternative splicing, and post-translational processing regulate neuroligin selectivity for beta-neurexins - Comoletti_2006_Biochemistry_45_12816
Author(s) : Comoletti D , Flynn RE , Boucard AA , Demeler B , Schirf V , Shi J , Jennings LL , Newlin HR , Sudhof TC , Taylor P
Ref : Biochemistry , 45 :12816 , 2006
Abstract :
PubMedSearch : Comoletti_2006_Biochemistry_45_12816
PubMedID: 17042500

Title : The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing - Comoletti_2004_J.Neurosci_24_4889
Author(s) : Comoletti D , De Jaco A , Jennings LL , Flynn RE , Gaietta G , Tsigelny I , Ellisman MH , Taylor P
Ref : Journal of Neuroscience , 24 :4889 , 2004
Abstract :
PubMedSearch : Comoletti_2004_J.Neurosci_24_4889
PubMedID: 15152050