Torpedo_number Report for: 44

human-NLGN4X

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R87W		nat	Natural mutation	associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export	Zhang_2009_J.Neurosci_29_10843

human-TG

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R2242H		nat	Congenital goiter with hypothyroidism	Natural mutation congenital hypothyroidism with goitre	Caron_2003_J.Clin.Endocrinol.Metab_88_3546

mouse-ACHE

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R46H		sdm	Intracellular retention	Site directed mutagenesis	De Jaco_2012_Febs.J_279_4293

ratno-3neur

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R83H		sdm	Intracellular retention	Site directed mutagenesis	De Jaco_2012_Febs.J_279_4293

torma-ACHE

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R44E		sdm	Salt bridge	effect on folding	Bucht_1994_Biochim.Biophys.Acta_1209_265
R44K		sdm	Salt bridge	effect on folding	Bucht_1994_Biochim.Biophys.Acta_1209_265

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
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