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

back to Presenilin-1 Mutations Table

  • Y115C
  • Y115H

    Mutation: Y115C
    Base Change: tAt-->tGt
    Family: 1066
    Onset Ages: 38-49 years
    Ethnic Origin: Caucasian
    Restriction Sites: Rsa I, Csp6 I(mutant)
    References: Cruts et al. 1998

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    Mutation: Y115H
    Base Change: Tat-->Cat
    Family: ALZ 025
    Onset Ages: 35-37 years
    Ethnic Origin: Caucasian
    Restriction Sites: NA
    References: Campion et al. 1995

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