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Mutation Report for: A184V_human-BCHE

A184V_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|A184V
Torpedo number|186
Summary|
Comment|p.A184V Ala184Val c.551C>T GCC->GTC (p.A212V Ala212Val in primary sequence with 28 amino-acids signal peptide) Silent variant
Kinetic parameters|none


References:
    Title: Prolonged response to succinylcholine: a new variant of plasma cholinesterase that is identified as normal by traditional phenotyping methods
    Greenberg CP, Primo-Parmo SL, Pantuck EJ, La Du BN
    Ref: Anesthesia & Analgesia, 81:419, 1995 : 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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