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Mutation Report for: T201NfsX11_human-SPG21

Gene_Locushuman-SPG21 Amino Acid changeT201NfsX11 Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    CommentP. T201NfsX11 Thr201AsnfsTer11 c.601insA Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003); In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome rs387906275
    References
      Title: Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
      Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH
      Ref: American Journal of Human Genetics, 73:1147, 2003 : PubMed

              

      Title: The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances
      Cross HE, McKusick VA
      Ref: Archives of Neurology, 16:1, 1967 : PubMed

              


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