Fernández MV, Black K, Carrell D, Saef B, Budde J, Deming Y, Howells B, Del-Aguila JL, Ma S, Bi C, Norton J, Chasse R, Morris J, Goate A, Cruchaga C, NIA-LOAD family study group, NCRAD. SORL1 variants across Alzheimer's disease European American cohorts. Eur J Hum Genet. 2016 Dec;24(12):1828-1830. Epub 2016 Sep 21 PubMed.

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Mutations

  1. SORL1 P76L
  2. SORL1 R303W
  3. SORL1 Y391C
  4. SORL1 R416G
  5. SORL1 T459K
  6. SORL1 R490Q
  7. SORL1 V583L
  8. SORL1 Q614H
  9. SORL1 P669L
  10. SORL1 R679W
  11. SORL1 G687S
  12. SORL1 R814H
  13. SORL1 R985Ter
  14. SORL1 R1080C
  15. SORL1 c.3581-1G>T
  16. SORL1 D1345N
  17. SORL1 T1483A
  18. SORL1 L1661F
  19. SORL1 F1873Y
  20. SORL1 Y1922S
  21. SORL1 S1979N
  22. SORL1 A2099G
  23. SORL1 R2163Q
  24. SORL1 M105T
  25. SORL1 S124R (C>G)
  26. SORL1 D140N
  27. SORL1 Y141C
  28. SORL1 R268Ter
  29. SORL1 E270K
  30. SORL1 R332W
  31. SORL1 N371T
  32. SORL1 c.1211+2T>G
  33. SORL1 R416Q
  34. SORL1 C473S
  35. SORL1 G511R
  36. SORL1 A528T (SNP 13)
  37. SORL1 G543E
  38. SORL1 S636T
  39. SORL1 H647Tfs
  40. SORL1 R654W
  41. SORL1 R729W
  42. SORL1 D734N
  43. SORL1 V750I
  44. SORL1 D806N
  45. SORL1 T868Kfs
  46. SORL1 T1002M
  47. SORL1 I1091V
  48. SORL1 I1116V
  49. SORL1 R1207Q
  50. SORL1 W1216Ter
  51. SORL1 D1219G
  52. SORL1 F1291L
  53. SORL1 A1310V
  54. SORL1 D1389V
  55. SORL1 V1459I
  56. SORL1 C1478Ter
  57. SORL1 G1536S
  58. SORL1 W1563C
  59. SORL1 P1654L
  60. SORL1 N1809S
  61. SORL1 H1813Q
  62. SORL1 W1821Ter
  63. SORL1 V1967I (I1967V)
  64. SORL1 H2038D
  65. SORL1 E2055Ter
  66. SORL1 D2065V
  67. SORL1 V2097I
  68. SORL1 T2134M
  69. SORL1 S2175R (C>G)