Zhou X, Cao H, Jiang Y, Chen Y, Zhong H, Fu WY, Lo RM, Wong BW, Cheng EY, Mok KY, Kwok TC, Mok VC, Ip FC, Alzheimer's Disease Neuroimaging Initiative, Miyashita A, Hara N, Ikeuchi T, Hardy J, Chen Y, Fu AK, Ip NY. Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease. Alzheimers Dement. 2025 Jan;21(1):e14214. Epub 2024 Dec 10 PubMed.

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Mutations

  1. SORL1 c.2267-1094C>T
  2. SORL1 c.3050-2179G>A
  3. SORL1 c.3050-1379G>T
  4. SORL1 c.3460+868A>G
  5. SORL1 c.3580+229G>A
  6. SORL1 c.3580+2223G>A
  7. SORL1 c.4519+2811G>A
  8. SORL1 c.4519+3954A>G
  9. SORL1 c.4519+4139C>G
  10. SORL1 c.4519+4165C>T
  11. SORL1 c.4520-1511T>C
  12. SORL1 c.4520-877T>C
  13. SORL1 c.4520-663A>G
  14. SORL1 c.5062-79C>T
  15. SORL1 c.3049+2554C>T
  16. SORL1 Haplotype A
  17. SORL1 c.3049+3560C>A
  18. SORL1 c.3050-2179G>A
  19. SORL1 c.3050-2062T>C
  20. SORL1 c.3050-1645G>A
  21. SORL1 c.3050-1379G>T
  22. SORL1 c.3050-78A>G
  23. SORL1 c.3338-139G>C
  24. SORL1 c.3460+1146C>G
  25. SORL1 c.3461-1391T>C
  26. SORL1 c.3580+863T>C
  27. SORL1 c.3581-2466A>G
  28. SORL1 c.3581-1813G>A
  29. SORL1 c.3581-388A>T
  30. SORL1 c.3581-384C>T
  31. SORL1 c.3707-870G>A
  32. SORL1 c.3707-275C>G
  33. SORL1 c.3815-84G>A
  34. SORL1 c.3050-2062T>C
  35. SORL1 c.4214-117G>C

News

  1. Update on SORL1: Trafficking is Paramount, in Neurons and Microglia