L593F_human-NLGN4X

General

Gene Locus : human-NLGN4X

Mode of mutation : Natural mutant

Disease : Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2

Summary : Natural mutation Benign Sun_2019_Ann.Gen.Psychiatry_18_6

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 527

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
rs3747333 NM_181332.2:c.1777C>T p.Leu593Phe there are mutations on the same base which are synonymous

References (4)

Title : Analysis of the SNP rs3747333 and rs3747334 in NLGN4X gene in autism spectrum disorder: a meta-analysis - Sun_2019_Ann.Gen.Psychiatry_18_6
Author(s) : Sun H , Yang Y , Zhang L , Wu H , Zhang H , Li H
Ref : Ann Gen Psychiatry , 18 :6 , 2019
Abstract :
PubMedSearch : Sun_2019_Ann.Gen.Psychiatry_18_6
PubMedID: 31139237
Gene_locus related to this paper: human-NLGN4X

Title : Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism - Avdjieva-Tzavella_2012_Genet.Couns_23_505
Author(s) : Avdjieva-Tzavella DM , Todorov TP , Todorova AP , Kirov AV , Hadjidekova SP , Rukova BB , Litvinenko IO , Hristova-Naydenova DN , Tincheva RS , Toncheva DI
Ref : Genet Couns , 23 :505 , 2012
Abstract :
PubMedSearch : Avdjieva-Tzavella_2012_Genet.Couns_23_505
PubMedID: 23431752
Gene_locus related to this paper: human-NLGN4X

Title : Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients -
Author(s) : Yan J , Oliveira G , Coutinho A , Yang C , Feng J , Katz C , Sram J , Bockholt A , Jones IR , Craddock N , Cook EH, Jr. , Vicente A , Sommer SS
Ref : Mol Psychiatry , 10 :329 , 2005
PubMedID: 15622415
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : NLGN3\/NLGN4 gene mutations are not responsible for autism in the Quebec population - Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74
Author(s) : Gauthier J , Bonnel A , St-Onge J , Karemera L , Laurent S , Mottron L , Fombonne E , Joober R , Rouleau GA
Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 132B :74 , 2005
Abstract :
PubMedSearch : Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74
PubMedID: 15389766
Gene_locus related to this paper: human-NLGN4X