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Mutation Report for: T271fs_human-NLGN1

Gene_Locushuman-NLGN1 Amino Acid changeT271fs Torpedo number210
Mode of mutationNatural
Kinetic parametersnone
Summary
CommentA frameshift mutation, c.875_876insTT, in the neuroligin 1 gene (NLGN1) in a patient with AD and familial history of AD. The insertion generates a premature stop codon in the extracellular domain of NL1 (p.Thr271fs). Expression of mutant NL1 shows accumulation of truncated NL1 proteins in the endoplasmic reticulum.
References
    Title: A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function
    Tristan-Clavijo E, Camacho-Garcia RJ, Robles-Lanuza E, Ruiz A, van der Zee J, Van Broeckhoven C, Hernandez I, Martinez-Mir A, Scholl FG
    Ref: Neurobiology of Aging, 36:3171, 2015 : 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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