Report for: Data built from an AQL search 6 rows returned| Mutation | Text | txt |
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| 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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