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

Presenilin-1 Mutations Table

Mutation: S290

  • S290C
  • S290C2
  • S290C3

    Mutation: S290C
    Base Change: Gca-->Tca
    Families: F74, EOFAD-3
    Onset Ages: 39-50, 50 years
    Ethnic Origin: Caucasian
    Restriction Sites: NA
    References: Perez-Tur 1995,
      Hutton et al. 1996,
      Kwok 1997

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    Mutation: S290C2
    Base Change: Gca-->Aca
    Family: TK-1
    Onset Ages: 47.50?3.29 years
    Ethnic Origin: Japanese
    Restriction Sites: NA
    References: Sato et al. 1998

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    Mutation: S290C3
    Base Change: 4555bp genomic deletion
    Family: Finn2
    Onset Ages: 45-57 years
    Ethnic Origin: Caucasian
    Restriction Sites: NA
    References: Crook 1998,
      Prihar 1999

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