Gene Locus : human-NLGN4X
Mode of mutation : Natural mutant
Disease : Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 405, 406, 407408
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.V109L (c.325G > C) p.Val109Leu || p.V454_A457del c.1361_1372del12 p.Val454_Ala457del NM_181332.2
| Title : A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y - Nguyen_2020_Neuron_106_759 |
| Author(s) : Nguyen TA , Wu K , Pandey S , Lehr AW , Li Y , Bemben MA , Badger JD, 2nd , Lauzon JL , Wang T , Zaghloul KA , Thurm A , Jain M , Lu W , Roche KW |
| Ref : Neuron , 106 :759 , 2020 |
| Abstract : Nguyen_2020_Neuron_106_759 |
| ESTHER : Nguyen_2020_Neuron_106_759 |
| PubMedSearch : Nguyen_2020_Neuron_106_759 |
| PubMedID: 32243781 |
| Gene_locus related to this paper: human-NLGN4X |