Report for: Data built from an AQL search

 
6 rows returned
Mutation Text txt
G297E_human-NLGN1 p.Gly297Glu. Rare variant in autism Natural
H795Y_human-NLGN1 p.His795Tyr c.2383 C->T. Rare variant in autism. A pair of siblings affected with a non-syndromic autism (AU072904, AU072905) rs765131109 Natural
L269P_human-NLGN1 p.Leu269Pro. Rare variant in autism Natural
P89L_human-NLGN1 p.Pro89Leu c.C->T. Rare variant in autism. A pair of siblings affected with a non-syndromic autism (AU072904, AU072905) Natural
T90I_human-NLGN1 p.Thr90Ile. Rare variant in autism Natural
T271fs_human-NLGN1 A 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. Natural

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