Rovelet-Lecrux A, Feuillette S, Miguel L, Schramm C, Pernet S, Quenez O, Ségalas-Milazzo I, Guilhaudis L, Rousseau S, Riou G, Frébourg T, Campion D, Nicolas G, Lecourtois M. Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease. Acta Neuropathol Commun. 2021 Dec 18;9(1):196. PubMed.

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Mutations

  1. SORL1 S114R
  2. SORL1 S564G
  3. SORL1 R788W
  4. SORL1 R877C
  5. SORL1 Y934C
  6. SORL1 A986T
  7. SORL1 N999D
  8. SORL1 W1095C
  9. SORL1 D1146N
  10. SORL1 N1392K
  11. SORL1 C1478S
  12. SORL1 D1535N
  13. SORL1 D1545N
  14. SORL1 V1642M
  15. SORL1 R1655Q
  16. SORL1 A1674T
  17. SORL1 W1862C
  18. SORL1 R1985C
  19. SORL1 G2075A
  20. SORL1 D54H
  21. SORL1 R67S (G>T)
  22. SORL1 P76L
  23. SORL1 S124R (C>G)
  24. SORL1 D140N
  25. SORL1 Y141C
  26. SORL1 R332W
  27. SORL1 N371T
  28. SORL1 C473S
  29. SORL1 G511R
  30. SORL1 G543E
  31. SORL1 S577P
  32. SORL1 S602L
  33. SORL1 R654W
  34. SORL1 N674S
  35. SORL1 R729W
  36. SORL1 R771C
  37. SORL1 D806N
  38. SORL1 V884M
  39. SORL1 N924S
  40. SORL1 F1099L
  41. SORL1 I1116V
  42. SORL1 D1161E
  43. SORL1 G1220R
  44. SORL1 R1243C
  45. SORL1 H1255Y
  46. SORL1 T1276M
  47. SORL1 G1298R
  48. SORL1 R1303C
  49. SORL1 A1310V
  50. SORL1 G1351S
  51. SORL1 N1358S
  52. SORL1 D1389V
  53. SORL1 N1422S
  54. SORL1 T1435S
  55. SORL1 E1543D
  56. SORL1 D1545E
  57. SORL1 E1604G
  58. SORL1 P1654L
  59. SORL1 G1681D
  60. SORL1 R1729G
  61. SORL1 R1729H
  62. SORL1 H1813Q
  63. SORL1 Y1816C
  64. SORL1 R1866W
  65. SORL1 P1914S
  66. SORL1 D2065V
  67. SORL1 K2083R
  68. SORL1 V2097I
  69. SORL1 T2134M
  70. SORL1 S2175R (C>A)