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Mutation Report for: S17fsX1_human-ABHD5

S17fsX1_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.S17fsX1 p.Ser17fsTer1 c.47+1G>A IVS1+1G>A splice site mutation G to A mutation in the GT donor splice site dinucleotide. retention of intron 1 giving a stop codon. The protein has only 17 aa (fs17stop)
    Kinetic parameters|none


    References:
      Title: Cerebral lipid accumulation in Chanarin-Dorfman Syndrome
      Huigen MC, van der Graaf M, Morava E, Dassel AC, van Steensel MA, Seyger MM, Wevers RA, Willemsen MA
      Ref: Mol Genet Metab, 114:51, 2015 : PubMed

              

      Title: Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5
      Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E
      Ref: Acta Paediatr, 99:1592, 2010 : PubMed

              

      Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
      Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
      Ref: Orphanet J Rare Dis, 5:33, 2010 : PubMed

              

      Title: Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation
      Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, Colli A
      Ref: Journal of Hepatology, 49:474, 2008 : PubMed

              




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