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Mutation Report for: Q279X_human-ABHD16A

Q279X_human-ABHD16A
Gene_Locus|human-ABHD16A
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|Q279X p.Gln279Stop NM_021160: c.835C>T. Homozygous ABHD16A nonsense variant in two affected children in a Chilean family. Mutation in in exon 9 of 20 coding exons, likely leading to nonsense-mediated mRNA decay
    Kinetic parameters|none


    References:
      Title: A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
      Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A and Matsumoto N <1 more author(s)>
      Ref: Clin Genet, :, 2021 : PubMed

              




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