Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, ARUK Consortium, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Bras J, Goate AM, Singleton AB, Guerreiro R, Hardy J. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One. 2016;11(6):e0150079. Epub 2016 Jun 1 PubMed.

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Mutations

  1. SORL1 R11P
  2. SORL1 M105T
  3. SORL1 R416Q
  4. SORL1 R480P
  5. SORL1 N559S
  6. SORL1 T725M
  7. SORL1 N828S
  8. SORL1 I1091V
  9. SORL1 R1207Ter
  10. SORL1 V1233G
  11. SORL1 R1390G
  12. SORL1 Y1441C
  13. SORL1 V1459I
  14. SORL1 Q1467H
  15. SORL1 R1490H
  16. SORL1 G1493S
  17. SORL1 S2175R (C>G)
  18. SORL1 D140N
  19. SORL1 E270K
  20. SORL1 R303W
  21. SORL1 N371T
  22. SORL1 Y391C
  23. SORL1 G447Rfs
  24. SORL1 A528T (SNP 13)
  25. SORL1 E560K
  26. SORL1 S577P
  27. SORL1 S636T
  28. SORL1 R639Q
  29. SORL1 D734N
  30. SORL1 A743V
  31. SORL1 V750I
  32. SORL1 V884M
  33. SORL1 T1002M
  34. SORL1 Q1074E
  35. SORL1 F1099L
  36. SORL1 I1116V
  37. SORL1 R1207Q
  38. SORL1 T1276M
  39. SORL1 F1291L
  40. SORL1 A1310V
  41. SORL1 G1379D
  42. SORL1 T1435S
  43. SORL1 P1454S
  44. SORL1 c.4519+1G>A
  45. SORL1 G1536S
  46. SORL1 W1563C
  47. SORL1 P1675S
  48. SORL1 R1729H
  49. SORL1 N1809S
  50. SORL1 H1813R
  51. SORL1 H1813Q
  52. SORL1 Y1816C
  53. SORL1 R1866W
  54. SORL1 F1873Y
  55. SORL1 V1967I (I1967V)
  56. SORL1 D2065V
  57. SORL1 K2083R
  58. SORL1 V2097I
  59. SORL1 T2134M