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Mutation Report for: P89L_human-NLGN1

Name Class
P89L_human-NLGN1Gene_locushuman-NLGN1
Torpedo_number39
AA_ChangeP89L
Mode_of_mutationNatural
Summary;;Nakanishi_2017_PLoS.Genet_13_e1006940
PaperNakanishi_2017_PLoS.Genet_13_e1006940
DiseaseNeuroligin 1 Alzheimer's disease (AD) Autism
Commentp.Pro89Leu c.C->T. Rare variant in autism. A pair of siblings affected with a non-syndromic autism (AU072904, AU072905)
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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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