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 : 433
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.1540C>T, p.Pro514Ser, identified in two affected brothers
| Title : Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment - Quartier_2019_Hum.Mutat_40_2021 |
| Author(s) : Quartier A , Courraud J , Thi Ha T , McGillivray G , Isidor B , Rose K , Drouot N , Savidan MA , Feger C , Jagline H , Chelly J , Shaw M , Laumonnier F , Gecz J , Mandel JL , Piton A |
| Ref : Hum Mutat , 40 :2021 , 2019 |
| Abstract : |
| PubMedSearch : Quartier_2019_Hum.Mutat_40_2021 |
| PubMedID: 31184401 |
| Gene_locus related to this paper: human-NLGN3 |