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Mutation Report for: A507fsX_human-LIPE

A507fsX_human-LIPE
Gene_Locus|human-LIPE
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|2-bp insertion in the LIPE gene. Farhan et al. (2014). The mutation caused a frameshift predicted to result in a premature termination codon (Ala507fsTer563) with an approximately 50% loss of the original polypeptide
    Kinetic parameters|none


    References:
      Title: Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin
      Carboni N, Brancati F, Cocco E, Solla E, D'Apice MR, Mateddu A, McIntyre A, Fadda E, Mura M and Hegele RA <6 more author(s)>
      Ref: Muscle & Nerve, 49:928, 2014 : PubMed

              

      Title: A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
      Farhan SM, Robinson JF, McIntyre AD, Marrosu MG, Ticca AF, Loddo S, Carboni N, Brancati F, Hegele RA
      Ref: Can J Cardiol, 30:1649, 2014 : PubMed

              




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