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Mutation Report for: T271fs_human-NLGN1

Name Class
T271fs_human-NLGN1Gene_locushuman-NLGN1
Torpedo_number210
AA_ChangeT271fs
Mode_of_mutationNatural
Summary;truncation;Tristan-Clavijo_2015_Neurobiol.Aging_36_3171
PaperTristan-Clavijo_2015_Neurobiol.Aging_36_3171
Arias-Aragon_2023_iScience_26_106868
DiseaseNeuroligin 1 Alzheimer's disease (AD) Autism
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.

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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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