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Mutation Report for: V184A_human-NLGN3

Mode of mutation|Natural mutant
Amino Acid change|V184A
Torpedo number|113
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
Kinetic parameters|none

    Title: Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism
    Hegde R, Hegde S, Kulkarni SS, Pandurangi A, Gai PB, Das KK
    Ref: Genomics Inform, 19:e44, 2021 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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