Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Eur J Hum Genet. 2017 Aug;25(8):973-981. Epub 2017 May 24 PubMed.

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News

  1. The Search for the Missing AD Heritability Turns Up New Rare Variants
  2. Gaining Notoriety, SORL1 Claims Spot Among Top Alzheimer’s Genes
  3. Sorting Out SORL1: 500+ Mutations Mapped, Prioritized in Alzforum Dataset

Mutations

  1. SORL1 N115N
  2. SORL1 c.403-3C>G
  3. SORL1 F191S
  4. SORL1 H314L
  5. SORL1 c.1041+34A>G
  6. SORL1 I351I
  7. SORL1 S355S
  8. SORL1 c.1404+5T>C
  9. SORL1 S474C
  10. SORL1 c.1523-47C>A
  11. SORL1 c.1523-29T>G
  12. SORL1 c.1596+16C>T
  13. SORL1 I552V
  14. SORL1 c.1686-28A>T
  15. SORL1 V581G
  16. SORL1 V583V
  17. SORL1 R679Q
  18. SORL1 S695S
  19. SORL1 c.2180+29G>C
  20. SORL1 R729Q
  21. SORL1 R744Ter
  22. SORL1 A764A
  23. SORL1 T779T
  24. SORL1 G786R
  25. SORL1 c.2440-15C>T
  26. SORL1 D929D
  27. SORL1 H962Pfs
  28. SORL1 c.2911-39C>T
  29. SORL1 G1003Hfs
  30. SORL1 N1081N
  31. SORL1 I1094V
  32. SORL1 D1105H
  33. SORL1 c.3337+10C>T
  34. SORL1 c.3460+12T>C
  35. SORL1 c.3460+13C>T
  36. SORL1 H1156H
  37. SORL1 S1167S
  38. SORL1 N1181N
  39. SORL1 c.3581-26G>A
  40. SORL1 T1222M
  41. SORL1 T1222T
  42. SORL1 c.3707-11T>C
  43. SORL1 G1258S
  44. SORL1 c.3814+10T>G
  45. SORL1 T1276T
  46. SORL1 M1279V
  47. SORL1 D1304D
  48. SORL1 D1345D
  49. SORL1 c.4079-43C>G
  50. SORL1 c.4079-39T>TG
  51. SORL1 N1384Dfs
  52. SORL1 G1440R (G>A)
  53. SORL1 c.4369+13C>T
  54. SORL1 R1501W
  55. SORL1 c.4520-13C>G
  56. SORL1 A1526S
  57. SORL1 D1535D
  58. SORL1 D1620V
  59. SORL1 P1675S
  60. SORL1 H1680H
  61. SORL1 c.5062-16T>G
  62. SORL1 M1697I (G>C)
  63. SORL1 R1729H
  64. SORL1 c.5419+6A>G
  65. SORL1 Y1816Y
  66. SORL1 R1866W
  67. SORL1 c.5724+16C>T
  68. SORL1 c.5890-15C>CT
  69. SORL1 G2000R
  70. SORL1 Q2007Q
  71. SORL1 c.6172-3C>T
  72. SORL1 D2079N
  73. SORL1 Q2106Q
  74. SORL1 L2158L
  75. SORL1 T2160M
  76. SORL1 S101F
  77. SORL1 D140N
  78. SORL1 K146Q
  79. SORL1 R205Q
  80. SORL1 H269H (SNP 7)
  81. SORL1 E270K
  82. SORL1 R303W
  83. SORL1 M307V
  84. SORL1 V324L
  85. SORL1 R332W
  86. SORL1 Y350Ter
  87. SORL1 N371T
  88. SORL1 Y391C
  89. SORL1 R416Ter
  90. SORL1 R416Q
  91. SORL1 G447Rfs
  92. SORL1 T459K
  93. SORL1 R480C
  94. SORL1 G508S
  95. SORL1 G511R
  96. SORL1 A528T (SNP 13)
  97. SORL1 E560K
  98. SORL1 S577P
  99. SORL1 S636T
  100. SORL1 R639Q
  101. SORL1 E642K
  102. SORL1 T659Sfs
  103. SORL1 N674S
  104. SORL1 D734N
  105. SORL1 A743V
  106. SORL1 V750I
  107. SORL1 C752Sfs
  108. SORL1 L762P
  109. SORL1 R771C
  110. SORL1 L807P
  111. SORL1 N818K (T>G)
  112. SORL1 T833T (SNP 16)
  113. SORL1 W848Ter
  114. SORL1 G852R
  115. SORL1 G852A
  116. SORL1 V870I
  117. SORL1 V884M
  118. SORL1 P885T
  119. SORL1 T936M
  120. SORL1 C942G
  121. SORL1 Q980R
  122. SORL1 T1002M
  123. SORL1 Q1074E
  124. SORL1 R1080C
  125. SORL1 R1084C
  126. SORL1 R1084H
  127. SORL1 F1099L
  128. SORL1 D1100N
  129. SORL1 C1103Vfs
  130. SORL1 P1113S
  131. SORL1 I1116V
  132. SORL1 D1182N
  133. SORL1 S1187S (SNP 19)
  134. SORL1 R1207Q
  135. SORL1 N1246N (SNP 22)
  136. SORL1 C1249S
  137. SORL1 D1267E
  138. SORL1 T1276M
  139. SORL1 F1291L
  140. SORL1 G1298R
  141. SORL1 A1310V
  142. SORL1 A1311G
  143. SORL1 H1322N
  144. SORL1 C1344R
  145. SORL1 G1379D
  146. SORL1 N1392N
  147. SORL1 L1409F
  148. SORL1 T1435S
  149. SORL1 G1440R (G>C)
  150. SORL1 R1442Ter
  151. SORL1 G1447S
  152. SORL1 C1453S
  153. SORL1 P1454S
  154. SORL1 V1459I
  155. SORL1 R1470L
  156. SORL1 P1481L
  157. SORL1 T1483M
  158. SORL1 R1490C
  159. SORL1 R1490H
  160. SORL1 A1504D
  161. SORL1 c.4519+1G>A
  162. SORL1 E1522K
  163. SORL1 G1536S
  164. SORL1 E1543D
  165. SORL1 A1548T
  166. SORL1 W1563C
  167. SORL1 A1584A (SNP 23)
  168. SORL1 V1594M
  169. SORL1 L1657F
  170. SORL1 V1668M
  171. SORL1 M1697I (G>A)
  172. SORL1 R1702M
  173. SORL1 G1732A
  174. SORL1 I1748Sfs
  175. SORL1 R1799Q
  176. SORL1 N1809S
  177. SORL1 H1813R
  178. SORL1 H1813Q
  179. SORL1 Y1816C
  180. SORL1 G1871V
  181. SORL1 F1873Y
  182. SORL1 P1885S
  183. SORL1 K1895K
  184. SORL1 R1910H
  185. SORL1 P1955L
  186. SORL1 S1958C
  187. SORL1 V1967I (I1967V)
  188. SORL1 D2014N
  189. SORL1 H2038D
  190. SORL1 D2065V
  191. SORL1 K2083R
  192. SORL1 G2090C
  193. SORL1 G2090V
  194. SORL1 V2097I
  195. SORL1 T2134M
  196. SORL1 I2147M
  197. SORL1 A2173T
  198. SORL1 N2174S
  199. SORL1 S2175R (C>G)

Therapeutics

  1. Latozinemab