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Mutation Report for: R83H_ratno-3neur

R83H_ratno-3neur
Gene_Locus|ratno-3neur
Mode of mutation|Site directed mutagenesis
Amino Acid change|R83H
Torpedo number|44
Summary|
Comment|p.R46H Arg46His homologous mutation in rat neurloligin3 (NLGN3) corresponding to the natural mutation found congenital hypothyroidism with goitre p.R2242H Arg2242His c.6725G>A (p.R2223H Arg2223His in mature protein without 19-amino-acids signal peptide) Caron_2003_J.Clin.Endocrinol.Metab_88_3546
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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