V184A_human-NLGN3

General

Gene Locus : human-NLGN3

Mode of mutation : Natural mutant

Disease : Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1

Summary : Natural mutation Mutation found in 27 autistic children out of 108 patients form India Hedge_2021_Genomics.Inform_19_e44

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 113

Kinetic Parameter : No kinetic parameter

News : No news

Comment : c.551 T>C p.V184A p.Val184A . It is Val 204 in the sequence in Uniprot (in the sequence PVM V YIHGGS) found in 27 autistic children out of 108 patients form India

References (1)

Title : Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism - Hegde_2021_Genomics.Inform_19_e44
Author(s) : Hegde R , Hegde S , Kulkarni SS , Pandurangi A , Gai PB , Das KK
Ref : Genomics Inform , 19 :e44 , 2021
Abstract : Hegde_2021_Genomics.Inform_19_e44
ESTHER : Hegde_2021_Genomics.Inform_19_e44
PubMedSearch : Hegde_2021_Genomics.Inform_19_e44
PubMedID: 35012288
Gene_locus related to this paper: human-NLGN3