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Mutation Report for: L2283P_mouse-thyro
Name
Class
L2283P_mouse-thyro
Gene_locus
mouse-thyro
Torpedo_number
97
AA_Change
L2283P
Mode_of_mutation
Natural mutant
Modification
Congenital goiter with hypothyroidism
Intracellular retention
Summary
Congenital goiter with hypothyroidism;Natural mutation Causes congenital goiter with hypothyroidism in the cog/cog mouse;Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
Paper
Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
De Jaco_2012_Febs.J_279_4293
Park_2004_J.Biol.Chem_279_17085
Comment
p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acids signal peptide)
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.
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