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Mutation Report for: T206RfsX7_human-ABHD5

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|c.616ins/del c.616_647delinsGGG In exon 4 at position 616, an insertion of 3 bp (GGG) followed by a deletion of 31 bp; this leads to a frameshift of the open reading frame and the creation of a stop codon. Compound heterozygote with R312X T206RfsX7
    Kinetic parameters|none

      Title: Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome
      Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, Gonzalez-Ensenat MA, Fischer J, Azon A
      Ref: Br J Dermatol, 153:838, 2005 : PubMed


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