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.V326M c.976 G>A Maternal Male The proband inherited from his mother rare missense mutations (c.3295C>G [p.Pro1099Ala] in both EHMT1 and X-linked NLGN3 (although the latter alteration is predicted to be benign by bioinformatic analysis)
| Title : Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing - Jiang_2013_Am.J.Hum.Genet_93_249 |
| Author(s) : Jiang YH , Yuen RK , Jin X , Wang M , Chen N , Wu X , Ju J , Mei J , Shi Y , He M , Wang G , Liang J , Wang Z , Cao D , Carter MT , Chrysler C , Drmic IE , Howe JL , Lau L , Marshall CR , Merico D , Nalpathamkalam T , Thiruvahindrapuram B , Thompson A , Uddin M , Walker S , Luo J , Anagnostou E , Zwaigenbaum L , Ring RH , Wang J , Lajonchere C , Shih A , Szatmari P , Yang H , Dawson G , Li Y , Scherer SW |
| Ref : American Journal of Human Genetics , 93 :249 , 2013 |
| Abstract : |
| PubMedSearch : Jiang_2013_Am.J.Hum.Genet_93_249 |
| PubMedID: 23849776 |
| Gene_locus related to this paper: human-NLGN3 |