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Home: Research: Compendia: Mutations: Presenilin Mutations Directory
The Presenilin Mutations

Presenilin-1 Mutations Table

Mutation: R269

  • R269g
  • R269h

    Mutation: R269G
    Base Change: Cgt-->Ggt
    Family: Okla2
    Onset Ages: 47 years
    Ethnic Origin: Caucasian
    Restriction Sites: NA
    References: Perez-Tur et al. 1996

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    Mutation: R269H
    Base Change: cGt-->cAt
    Family: 1 sporadic EOAD case,
      M.K.
    Onset Ages: 47, 50 years
    Ethnic Origin: Caucasian, Japanese
    Restriction Sites: Nde I(mutant)
    References: Gomez-Isla et al. 1997,
      Kamimura et al. 1998

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