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Mutation Report for: F440V_human-CTSA

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.F440V Phe440Val (p.F412V Phe412Val in the mature protein without signal peptide)
    Kinetic parameters|none

      Title: The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis
      Rudenko G, Bonten E, Hol WG, d'Azzo A
      Ref: Proceedings of the National Academy of Sciences of the United States of America, 95:621, 1998 : PubMed


      Title: Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis
      Zhou XY, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Morrone A, Zammarchi E and d'Azzo A <1 more author(s)>
      Ref: Hum Mol Genet, 5:1977, 1996 : PubMed


      Title: A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable
      Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A
      Ref: EMBO Journal, 10:4041, 1991 : PubMed


      Title: Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form
      Strisciuglio P, Sly WS, Dodson WE, McAlister WH, Martin TC
      Ref: American Journal of Medicine Genet, 37:573, 1990 : PubMed


      Title: Juvenile galactosialidosis in a white male: a new variant
      Chitayat D, Applegarth DA, Lewis J, Dimmick JE, McCormick AQ, Hall JG
      Ref: American Journal of Medicine Genet, 31:887, 1988 : PubMed


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