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Mutation Report for: L199FfsX_human-CTSA

L199FfsX_human-CTSA
Gene_Locus|human-CTSA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|NM_000308:exon6:c.649delC:p.L217fs Truncation of >75 % of the protein sequence. Known cause of NIHF (lethal non-immune hydrops fetalis) in severe cases
    Kinetic parameters|none


    References:
      Title: Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
      Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A and Alkuraya FS <6 more author(s)>
      Ref: Genome Biol, 16:116, 2015 : PubMed

              




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