Kinetic parameters

Tree Display

AceDB Schema

XML Display


Mutation Report for: L2283P_mouse-thyro

Mode of mutation|Natural mutant
Amino Acid change|L2283P
Torpedo number|97
Comment|p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acids signal peptide)
Kinetic parameters|none

    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


Send your questions or comments to :
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.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page

Acknowledgements and disclaimer