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Mutation Report for: G221VfsX9_human-ABHD5

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.G221VfsX9 Gly221ValfsTer9 c.662-1330_773+46del. Large deletion removed part of intron 4, exon5 and part of intron 5, results in a protein lacking 129 aa in the C-terminal region (fs221Stop)
    Kinetic parameters|none

      Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
      Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
      Ref: Orphanet J Rare Dis, 5:33, 2010 : PubMed


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