R395C_mouse-ACHE

General

Gene Locus : mouse-ACHE

Mode of mutation : site directed mutagenesis

Disease :

Summary : Intracellular retention Intracellular retention similar to R451C_human-NLGN3 De Jaco_2005_Chem.Biol.Interact_157-158_371 || Intracellular retention Intracellular retention similar to R451C_human-NLGN3 De Jaco_2006_J.Biol.Chem_281_9667

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Intracellular retention

Torpedo_number : 388

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.Arg395Cys

References (2)

Title : A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family - De Jaco_2006_J.Biol.Chem_281_9667
Author(s) : De Jaco A , Comoletti D , Kovarik Z , Gaietta G , Radic Z , Lockridge O , Ellisman MH , Taylor P
Ref : Journal of Biological Chemistry , 281 :9667 , 2006
PubMedID: 16434405

Title : A single mutation near the C-terminus in alpha\/beta hydrolase fold protein family causes a defect in protein processing - De Jaco_2005_Chem.Biol.Interact_157-158_371
Author(s) : De Jaco A , Kovarik Z , Comoletti D , Jennings LL , Gaietta G , Ellisman MH , Taylor P
Ref : Chemico-Biological Interactions , 157-158 :371 , 2005
PubMedID: 16429495