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 : 119
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.G188R c.562G>A Inheritance Pattern Maternal. Propand Male. Functional experiments showed that the NLGN3 c.562G>A (p.G188R) hemizygous variant affects protein stability and is deleterious
| Title : Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing - Qin_2025_Dev.Neurosci__1 |
| Author(s) : Qin Y , Cao H , Liu L , Yi M , Wang T , Zeng L , Wang X , Xu R , Zhang C , Li H , Song J |
| Ref : Developmental Neuroscience , :1 , 2025 |
| Abstract : |
| PubMedSearch : Qin_2025_Dev.Neurosci__1 |
| PubMedID: 41134724 |
| Gene_locus related to this paper: human-NLGN3 |