R175W_human-NLGN3

General

Gene Locus : human-NLGN3

Mode of mutation : Natural mutant

Disease : Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.R175W c.523 C>T De Novo Female

References (2)

Title : NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila - Townsley_2026_bioRxiv__
Author(s) : Townsley R , Andrews J , Srivastav S , Jangam S , Hannan S , Kanca O , Yamamoto S , Wangler MF
Ref : bioRxiv , : , 2026
Abstract :
PubMedSearch : Townsley_2026_bioRxiv__
PubMedID: 41929011
Gene_locus related to this paper: human-NLGN3

Title : The contribution of de novo coding mutations to autism spectrum disorder - Iossifov_2014_Nature_515_216
Author(s) : Iossifov I , O'Roak BJ , Sanders SJ , Ronemus M , Krumm N , Levy D , Stessman HA , Witherspoon KT , Vives L , Patterson KE , Smith JD , Paeper B , Nickerson DA , Dea J , Dong S , Gonzalez LE , Mandell JD , Mane SM , Murtha MT , Sullivan CA , Walker MF , Waqar Z , Wei L , Willsey AJ , Yamrom B , Lee YH , Grabowska E , Dalkic E , Wang Z , Marks S , Andrews P , Leotta A , Kendall J , Hakker I , Rosenbaum J , Ma B , Rodgers L , Troge J , Narzisi G , Yoon S , Schatz MC , Ye K , McCombie WR , Shendure J , Eichler EE , State MW , Wigler M
Ref : Nature , 515 :216 , 2014
Abstract :
PubMedSearch : Iossifov_2014_Nature_515_216
PubMedID: 25363768
Gene_locus related to this paper: human-NLGN3