P89L_human-NLGN1

General

Gene Locus : human-NLGN1

Mode of mutation : Natural

Disease : Neuroligin 1 Alzheimer's disease (AD) Autism

Summary : Nakanishi_2017_PLoS.Genet_13_e1006940

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 39

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.Pro89Leu c.C->T. Rare variant in autism. A pair of siblings affected with a non-syndromic autism (AU072904, AU072905)

References (1)

Title : Functional significance of rare neuroligin 1 variants found in autism - Nakanishi_2017_PLoS.Genet_13_e1006940
Author(s) : Nakanishi M , Nomura J , Ji X , Tamada K , Arai T , Takahashi E , Bucan M , Takumi T
Ref : PLoS Genet , 13 :e1006940 , 2017
PubMedID: 28841651
Gene_locus related to this paper: human-NLGN1