V454_A457del_human-NLGN4X

General

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

References (1)

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 :
PubMedSearch : Nguyen_2020_Neuron_106_759
PubMedID: 32243781
Gene_locus related to this paper: human-NLGN4X