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Mutation Report for: R101Q_human-NLGN4X

Mode of mutation|Natural mutant
Amino Acid change|R101Q
Torpedo number|58
    Comment|p.R101Q (c.302G > A) p.Arg101Gln
    Kinetic parameters|none

      Title: An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons
      Cast TP, Boesch DJ, Smyth K, Shaw AE, Ghebrial M, Chanda S
      Ref: Journal of Neuroscience, 41:392, 2021 : PubMed


      Title: A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y
      Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD, 2nd, Lauzon JL, Wang T and Roche KW <4 more author(s)>
      Ref: Neuron, 106:759, 2020 : PubMed


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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