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Neuroligins are postsynaptic cell adhesion molecules that interact with neurexins to regulate the fine balance between excitation and inhibition of synapses. Recently, accumulating evidence, involving mutation analysis, cellular assays, and mouse models, has suggested that neuroligin (NLGN) mutations affect synapse maturation and function. Previously, four missense variations [p.G426S (NLGN3), p.G84R (NLGN4X), p.Q162K (NLGN4X), and p.A283T (NLGN4X)] in four different unrelated patients have been identified by PCR and direct sequencing.
Pubmed ID: 28948087 RIS Download
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Evaluates disease-causing potential of sequence alterations.
View all literature mentionsSoftware tool which predicts possible impact of amino acid substitution on structure and function of human protein using straightforward physical and comparative considerations. PolyPhen-2 is new development of PolyPhen tool for annotating coding nonsynonymous SNPs.
View all literature mentionsCell line HEK293 is a Transformed cell line with a species of origin Homo sapiens (Human)
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Human IgG (H+L)
View all literature mentionsThis monoclonal targets Calnexin
View all literature mentionsThis monoclonal targets p230 trans Golgi
View all literature mentionsThis polyclonal targets GFP
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis monoclonal targets Calnexin
View all literature mentionsThis unknown targets Human IgG (H+L)
View all literature mentionsThis monoclonal targets p230 trans Golgi
View all literature mentionsThis polyclonal targets GFP
View all literature mentionsThis monoclonal targets p230 trans Golgi
View all literature mentionsThis polyclonal targets GFP
View all literature mentionsThis monoclonal targets Calnexin
View all literature mentionsThis unknown targets Mouse IgG (H+L)
View all literature mentionsThis unknown targets Human IgG (H+L)
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