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Mutation Report for: L2283P_mouse-thyro

L2283P_mouse-thyro
Gene_Locus|mouse-thyro
Mode of mutation|Natural mutant
Amino Acid change|L2283P
Torpedo number|97
Summary|
Comment|p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acids signal peptide)
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

            

    Title: The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin
    Park YN, Arvan P
    Ref: Journal of Biological Chemistry, 279:17085, 2004 : PubMed

            

    Title: A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases
    Kim PS, Hossain SA, Park YN, Lee I, Yoo SE, Arvan P
    Ref: Proc Natl Acad Sci U S A, 95:9909, 1998 : PubMed

            




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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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