Torpedo_number Report for: 541

human-BCHE

Mutation	Type	Evaluation system	Effect	Reference
E497V/ A539T	nat	Natural mutation	J-variant (E1j) low level in serum	Bartels_1992_Am.J.Hum.Genet_50_1104
E497V/ A539T	nat	J-variant	low level in serum	Bartels_1992_Am.J.Hum.Genet_50_1104
A539T	nat	Natural mutation	K-variant/low activity	Bartels_1992_Am.J.Hum.Genet_50_1086, Bartels_1992_Am.J.Hum.Genet_50_1104, Ehrlich_1994_Genomics_22_288
A539T	nat	Natural mutation	Silent phenotype?	Maekawa_1995_Clin.Chim.Acta_235_41
D70G/ A539T	nat	Natural mutation	A539T co appears with D70G natural mutation	Bartels_1992_Am.J.Hum.Genet_50_1086

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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