Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. Acta Neuropathol. 2016 Aug;132(2):213-24. Epub 2016 Mar 30 PubMed.

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Mutations

  1. SORL1 S101F
  2. SORL1 D140N
  3. SORL1 K146Q
  4. SORL1 R205Q
  5. SORL1 M307V
  6. SORL1 V324L
  7. SORL1 Y350Ter
  8. SORL1 R416Ter
  9. SORL1 G447Rfs
  10. SORL1 R480C
  11. SORL1 G508S
  12. SORL1 E560K
  13. SORL1 S577P
  14. SORL1 S636T
  15. SORL1 R639Q
  16. SORL1 E642K
  17. SORL1 T659Sfs
  18. SORL1 N674S
  19. SORL1 D734N
  20. SORL1 A743V
  21. SORL1 V750I
  22. SORL1 C752Sfs
  23. SORL1 L762P
  24. SORL1 R771C
  25. SORL1 L807P
  26. SORL1 N818K (T>G)
  27. SORL1 G852R
  28. SORL1 V870I
  29. SORL1 V884M
  30. SORL1 P885T
  31. SORL1 T936M
  32. SORL1 C942G
  33. SORL1 Q980R
  34. SORL1 T1002M
  35. SORL1 R1084H
  36. SORL1 C1103Vfs
  37. SORL1 P1113S
  38. SORL1 D1182N
  39. SORL1 C1249S
  40. SORL1 D1267E
  41. SORL1 T1276M
  42. SORL1 F1291L
  43. SORL1 G1298R
  44. SORL1 A1310V
  45. SORL1 A1311G
  46. SORL1 H1322N
  47. SORL1 C1344R
  48. SORL1 G1379D
  49. SORL1 L1409F
  50. SORL1 G1440R (G>C)
  51. SORL1 R1442Ter
  52. SORL1 G1447S
  53. SORL1 C1453S
  54. SORL1 P1454S
  55. SORL1 R1470L
  56. SORL1 P1481L
  57. SORL1 T1483M
  58. SORL1 R1490C
  59. SORL1 A1504D
  60. SORL1 E1522K
  61. SORL1 E1543D
  62. SORL1 A1548T
  63. SORL1 W1563C
  64. SORL1 V1594M
  65. SORL1 L1657F
  66. SORL1 V1668M
  67. SORL1 M1697I (G>A)
  68. SORL1 G1732A
  69. SORL1 I1748Sfs
  70. SORL1 N1809S
  71. SORL1 H1813R
  72. SORL1 H1813Q
  73. SORL1 Y1816C
  74. SORL1 P1885S
  75. SORL1 K1895K
  76. SORL1 R1910H
  77. SORL1 P1955L
  78. SORL1 S1958C
  79. SORL1 D2014N
  80. SORL1 H2038D
  81. SORL1 G2090C
  82. SORL1 G2090V
  83. SORL1 V2097I
  84. SORL1 I2147M
  85. SORL1 N2174S
  86. SORL1 M105T
  87. SORL1 H269H (SNP 7)
  88. SORL1 E270K
  89. SORL1 R303W
  90. SORL1 R332W
  91. SORL1 N371T
  92. SORL1 Y391C
  93. SORL1 R416Q
  94. SORL1 G511R
  95. SORL1 A528T (SNP 13)
  96. SORL1 T833T (SNP 16)
  97. SORL1 Q1074E
  98. SORL1 F1099L
  99. SORL1 I1116V
  100. SORL1 S1187S (SNP 19)
  101. SORL1 R1207Q
  102. SORL1 N1246N (SNP 22)
  103. SORL1 N1392N
  104. SORL1 T1435S
  105. SORL1 V1459I
  106. SORL1 c.4519+1G>A
  107. SORL1 G1536S
  108. SORL1 A1584A (SNP 23)
  109. SORL1 P1675S
  110. SORL1 R1729H
  111. SORL1 R1866W
  112. SORL1 F1873Y
  113. SORL1 V1967I (I1967V)
  114. SORL1 D2065V
  115. SORL1 K2083R
  116. SORL1 T2134M
  117. SORL1 S2175R (C>G)

News

  1. Gaining Notoriety, SORL1 Claims Spot Among Top Alzheimer’s Genes