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Mutation Report for: L593F_human-NLGN4X

Mode of mutation|Natural mutant
Amino Acid change|G99S
Torpedo number|527
Comment|rs3747333 NM_181332.2:c.1777C>T p.Leu593Phe there are mutations on the same base which are synonymous
Kinetic parameters|none

    Title: Analysis of the SNP rs3747333 and rs3747334 in NLGN4X gene in autism spectrum disorder: a meta-analysis
    Sun H, Yang Y, Zhang L, Wu H, Zhang H, Li H
    Ref: Ann Gen Psychiatry, 18:6, 2019 : PubMed


    Title: Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism
    Avdjieva-Tzavella DM, Todorov TP, Todorova AP, Kirov AV, Hadjidekova SP, Rukova BB, Litvinenko IO, Hristova-Naydenova DN, Tincheva RS, Toncheva DI
    Ref: Genet Couns, 23:505, 2012 : PubMed


    Title: NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
    Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA
    Ref: American Journal of Medicine Genet B Neuropsychiatr Genet, 132B:74, 2005 : PubMed


    Title: Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
    Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C, Sram J, Bockholt A, Jones IR and Sommer SS <3 more author(s)>
    Ref: Mol Psychiatry, 10:329, 2005 : PubMed


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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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