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Mutation Report for: R386C_mouse-BCHE

Mode of mutation|site directed mutagenesis
Amino Acid change|R386C
Torpedo number|388
Kinetic parameters|none

    Title: A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family
    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 : PubMed


    Title: A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing
    De Jaco A, Kovarik Z, Comoletti D, Jennings LL, Gaietta G, Ellisman MH, Taylor P
    Ref: Chemico-Biological Interactions, 157-158:371, 2005 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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