Torpedo_number Report for: 527

human-ACHE

Mutation	Kin.	Type	Evaluation system	Effect	Reference
L380R/ F535K		sdm	Subunit assembly	hydrophilic mutations L380R/F535K at dimer interface prevent dimer formation	Bester_2019_Protein.Sci_28_1106

human-BCHE : (kinetic parameters)

Mutation	Kin.	Type	Evaluation system	Effect	Reference
F525X	kin	sdm	Minimal C-term determination	50 aa can be deleted,gives an active monomere	Blong_1997_Biochem.J_327_747

human-NLGN4X

Mutation	Kin.	Type	Evaluation system	Effect	Reference
L593F		nat	Natural mutation	Benign	Sun_2019_Ann.Gen.Psychiatry_18_6

human-NLGN4Y

Mutation	Kin.	Type	Evaluation system	Effect	Reference
I679V		nat	Natural mutation	Autism	Yan_2008_Psychiatr.Genet_18_204

Send your questions or comments to :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.

For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page