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Mutation Report for: c.1403+1G-C_human-SERAC1

c.1403+1G-C_human-SERAC1
Gene_Locus|human-SERAC1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|homozygous G-to-C transversion in the donor splice site of exon 13 of the SERAC1 gene (c.1403+1G-C), resulting in the skipping of exon 13 and nonsense-mediated mRNA decay.
    Kinetic parameters|none


    References:
      Title: Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy
      Wedatilake Y, Plagnol V, Anderson G, Paine SM, Clayton PT, Jacques TS, Rahman S
      Ref: Neuropathol Appl Neurobiol, 41:399, 2015 : PubMed

              

      Title: Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
      Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C and de Brouwer AP <24 more author(s)>
      Ref: Nat Genet, 44:797, 2012 : PubMed

              




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