Devkota S, Williams TD, Wolfe MS. Familial Alzheimer's disease mutations in amyloid protein precursor alter proteolysis by γ-secretase to increase amyloid β-peptides of ≥45 residues. J Biol Chem. 2021;296:100281. Epub 2021 Jan 12 PubMed.

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Mutations

  1. APP A713T
  2. APP T714A (Iranian)
  3. APP T714I (Austrian)
  4. APP V715A (German)
  5. APP V715M (French)
  6. APP I716F (Iberian)
  7. APP I716T
  8. APP I716V (Florida)
  9. APP V717F (Indiana)
  10. APP V717G
  11. APP V717I (London)
  12. APP V717L
  13. APP T719P
  14. APP L723P (Australian)
  15. PSEN1 G384A
  16. PSEN1 L286V