Torpedo_number Report for: 149

human-CES1

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R171C		nat	Natural mutant	loss of function	Wang_2017_Drug.Metab.Dispos_45_1149

human-NLGN2

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R215H		nat	Natural mutation	loss-of-function - endoplasmic reticulum retension - incomplete penetrance	Sun_2011_Hum.Mol.Genet_20_3042

human-TG

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R2336X		nat	Congenital goiter with hypothyroidism	Natural mutation congenital hypothyroidism with goitre c.7006C>T [p.R2317X]	Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112
R2336Q		nat	Congenital goiter with hypothyroidism	Natural mutation congenital hypothyroidism with goitre	Kitanaka_2006_J.Hum.Genet_51_379

mouse-2neur

Mutation	Kin.	Type	Evaluation system	Effect	Reference
R215H		site directed mutagenesis			Chen_2017_Front.Psychiatry_8_257, Jiang_2018_Mol.Brain_11_31

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.

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