Murayama O, Tomita T, Nihonmatsu N, Murayama M, Sun X, Honda T, Iwatsubo T, Takashima A. Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease. Neurosci Lett. 1999 Apr 9;265(1):61-3. PubMed.

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Mutations

  1. PSEN1 Y115H
  2. PSEN1 E120K
  3. PSEN1 M139V
  4. PSEN1 M139T
  5. PSEN1 M139I (G>C)
  6. PSEN1 M139I (G>A)
  7. PSEN1 I143T
  8. PSEN1 M146V
  9. PSEN1 H163Y
  10. PSEN1 H163R
  11. PSEN1 A246E
  12. PSEN1 A260V
  13. PSEN1 P264L
  14. PSEN1 E280A (Paisa)
  15. PSEN1 C410Y
  16. PSEN1 L286V