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Mutation Report for: L144P_ratno-3neur

L144P_ratno-3neur
Gene_Locus|ratno-3neur
Mode of mutation|Site directed mutagenesis
Amino Acid change|L144P
Torpedo number|97
Summary|
Comment|p.L99P Leu99Pro homologous mutation in rat Neuroligin 3 (NLGN3) corresponding to the natural mutation giving congenital goiter with hypothyroidism in the cog/cog mouse p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acid signal peptide) Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
Kinetic parameters|none


References:
    Title: Congenital hypothyroidism mutations affect common folding and trafficking in the alpha/beta-hydrolase fold proteins
    De Jaco A, Dubi N, Camp S, Taylor P
    Ref: Febs J, 279:4293, 2012 : 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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