Xiao X, Liu H, Liu X, Zhang W, Zhang S, Jiao B. APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. Front Aging Neurosci. 2021;13:695808. Epub 2021 Jun 18 PubMed.

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Mutations

  1. PSEN1 R35Q
  2. PSEN1 A79V
  3. PSEN1 V82L
  4. PSEN1 L85P
  5. PSEN1 V89L (G>T)
  6. PSEN1 C92S
  7. PSEN1 V96F
  8. PSEN1 V94M
  9. PSEN1 V97L
  10. PSEN1 F105I
  11. PSEN1 F105V
  12. PSEN1 F105L
  13. PSEN1 L113Q
  14. PSEN1 L113P
  15. PSEN1 Y115H
  16. PSEN1 Y115D
  17. PSEN1 Y115C
  18. PSEN1 T116N
  19. PSEN1 T116I
  20. PSEN1 P117A
  21. PSEN1 P117S
  22. PSEN1 P117R
  23. PSEN1 P117L
  24. PSEN1 E120K
  25. PSEN1 E120G
  26. PSEN1 E120D (A>C)
  27. PSEN1 E123K
  28. PSEN1 N135D
  29. PSEN1 N135S
  30. PSEN1 A136G
  31. PSEN1 M139V
  32. PSEN1 M139K
  33. PSEN1 M139T
  34. PSEN1 M139I (G>C)
  35. PSEN1 M139I (G>A)
  36. PSEN1 I143V
  37. PSEN1 I143F
  38. PSEN1 I143N
  39. PSEN1 I143T
  40. PSEN1 I143M
  41. PSEN1 M146L (A>C)
  42. PSEN1 M146V
  43. PSEN1 M146L (A>T)
  44. PSEN1 M146I (G>A)
  45. PSEN1 M146I (G>C)
  46. PSEN1 T147I
  47. PSEN1 L153V
  48. PSEN1 Y154N
  49. PSEN1 Y154C
  50. PSEN1 Y156delinsFIY
  51. PSEN1 H163Y
  52. PSEN1 H163R
  53. PSEN1 W165G
  54. PSEN1 L166del
  55. PSEN1 L166H
  56. PSEN1 L166R
  57. PSEN1 L171P
  58. PSEN1 S169P
  59. PSEN1 S169L
  60. PSEN1 S170F
  61. PSEN1 L173W
  62. PSEN1 L173F (G>C)
  63. PSEN1 L174M
  64. PSEN1 L174R
  65. PSEN1 F175S
  66. PSEN1 F177L
  67. PSEN1 F177S
  68. PSEN1 S178P
  69. PSEN1 G183V
  70. PSEN1 E184D
  71. PSEN1 V191A
  72. PSEN1 G206S
  73. PSEN1 G206D
  74. PSEN1 G206V
  75. PSEN1 G209R
  76. PSEN1 G209E
  77. PSEN1 G209V
  78. PSEN1 I213F
  79. PSEN1 I213T
  80. PSEN1 H214D
  81. PSEN1 H214Y
  82. PSEN1 G217R
  83. PSEN1 G217D
  84. PSEN1 L219F
  85. PSEN1 L219P
  86. PSEN1 Q222R
  87. PSEN1 Q222H
  88. PSEN1 Q223R
  89. PSEN1 L226R
  90. PSEN1 I229F
  91. PSEN1 A231T
  92. PSEN1 A231V
  93. PSEN1 M233L (A>C)
  94. PSEN1 M233V
  95. PSEN1 M233L (A>T)
  96. PSEN1 M233T
  97. PSEN1 M233I (G>C)
  98. PSEN1 L235V
  99. PSEN1 L235P
  100. PSEN1 F237I
  101. PSEN1 F237L
  102. PSEN1 I238M
  103. PSEN1 K239N
  104. PSEN1 T245P
  105. PSEN1 A246E
  106. PSEN1 L248R
  107. PSEN1 L250V
  108. PSEN1 L250S
  109. PSEN1 Y256S
  110. PSEN1 A260V
  111. PSEN1 V261L
  112. PSEN1 V261F
  113. PSEN1 L262F
  114. PSEN1 C263R
  115. PSEN1 C263F
  116. PSEN1 P264L
  117. PSEN1 G266S
  118. PSEN1 P267S
  119. PSEN1 P267L
  120. PSEN1 R269G
  121. PSEN1 R269H
  122. PSEN1 L271V
  123. PSEN1 V272A
  124. PSEN1 E273A
  125. PSEN1 T274R
  126. PSEN1 R278K
  127. PSEN1 R278T
  128. PSEN1 R278I
  129. PSEN1 R278S
  130. PSEN1 E280A (Paisa)
  131. PSEN1 E280G
  132. PSEN1 L282V
  133. PSEN1 L282F
  134. PSEN1 L282R
  135. PSEN1 P284S
  136. PSEN1 P284L
  137. PSEN1 A285V
  138. PSEN1 L286P
  139. PSEN1 T291P
  140. PSEN1 E318G
  141. PSEN1 R352dup
  142. PSEN1 R358Q
  143. PSEN1 S365A
  144. PSEN1 S365Y
  145. PSEN1 D333G
  146. PSEN1 R377M
  147. PSEN1 G378E
  148. PSEN1 G378V
  149. PSEN1 G384A
  150. PSEN1 F386S
  151. PSEN1 S390I
  152. PSEN1 V391F
  153. PSEN1 L392V
  154. PSEN1 L392P
  155. PSEN1 G394V
  156. PSEN1 N405S
  157. PSEN1 A409T
  158. PSEN1 C410Y
  159. PSEN1 V412I
  160. PSEN1 L381V
  161. PSEN1 L418F
  162. PSEN1 L420R
  163. PSEN1 L424V
  164. PSEN1 L424F
  165. PSEN1 L424H
  166. PSEN1 L424R
  167. PSEN1 A426P
  168. PSEN1 A431E
  169. PSEN1 A434C
  170. PSEN1 L435F
  171. PSEN1 P436S
  172. PSEN1 P436Q
  173. PSEN1 I439V
  174. PSEN1 I439S
  175. PSEN1 T440del
  176. PSEN1 S290_S319delinsC (ΔE9Finn)
  177. PSEN1 c.869-22_869-23ins18 (ΔE9)
  178. PSEN1 S290_S319delinsC G>A (ΔE9)
  179. PSEN1 L113_I114insT (Intron 4)
  180. PSEN1 I83_M84del
  181. PSEN1 I168del (TATdel)
  182. PSEN1 S169del (S170del)
  183. PSEN1 T354I
  184. PSEN1 L286V
  185. PSEN1 S212Y
  186. PSEN1 L381F
  187. PSEN1 L166P
  188. PSEN1 M146I (G>T)
  189. PSEN1 A431V
  190. PSEN1 D40del (delGAC)
  191. PSEN1 E120D (A>T)
  192. PSEN1 A275V
  193. PSEN1 A434T
  194. PSEN1 I168del (TTAdel)
  195. PSEN1 L248P
  196. PSEN1 F105C
  197. PSEN1 G378fs
  198. PSEN1 T147P
  199. PSEN1 H163P
  200. PSEN1 L166V
  201. PSEN1 S230R
  202. PSEN1 S230I
  203. PSEN1 I168T
  204. PSEN1 T116R
  205. PSEN1 L235R
  206. PSEN1 L226F
  207. PSEN1 I202F
  208. PSEN1 L150P
  209. PSEN1 E184G
  210. PSEN1 M233I (G>A)
  211. PSEN1 L262V
  212. PSEN1 E273G
  213. PSEN1 R377W
  214. PSEN1 L134R
  215. PSEN1 A396T
  216. PSEN1 R108Q
  217. PSEN1 R352C
  218. PSEN1 T99A
  219. PSEN1 H131R
  220. PSEN1 L219R
  221. PSEN1 L173F (G>T)
  222. PSEN1 I83T
  223. PSEN1 S290_S319delinsC A>G (ΔE9)
  224. PSEN1 A231P
  225. PSEN1 S390N
  226. PSEN1 I437V
  227. PSEN1 A246P
  228. PSEN1 A164V
  229. PSEN1 I238_K239insI
  230. PSEN1 D40del (delACG)
  231. PSEN1 E280K
  232. PSEN1 I408T
  233. PSEN1 P267A
  234. PSEN1 H214N
  235. PSEN1 R220P
  236. PSEN1 G209A
  237. PSEN1 N135Y
  238. PSEN1 F386I
  239. PSEN1 F388L
  240. PSEN1 S290_R377delinsW (Δ9-10) (Δ9-10)
  241. PSEN1 V142F
  242. PSEN1 M84V
  243. PSEN1 L232P
  244. PSEN1 P88L
  245. PSEN1 V89L (G>C)
  246. PSEN1 S230N
  247. PSEN1 I416T
  248. PSEN1 W165C (G>T)
  249. PSEN1 F283L
  250. PSEN1 I213L
  251. PSEN1 L174del
  252. PSEN1 S170P
  253. PSEN1 V391G
  254. PSEN1 Q222P
  255. PSEN1 S132A
  256. PSEN1 T291A
  257. PSEN1 G417S
  258. PSEN1 L250F
  259. PSEN1 K311R
  260. PSEN1 Q127_R128delinsG
  261. PSEN1 M139L
  262. PSEN1 R157S
  263. PSEN1 L173S
  264. PSEN1 L262S
  265. PSEN1 F237C
  266. PSEN1 M84T
  267. PSEN1 P88H
  268. PSEN1 G111W
  269. PSEN1 P117Q
  270. PSEN1 I180N
  271. PSEN1 F205_G206delinsC
  272. PSEN1 M210R
  273. PSEN1 L241R
  274. PSEN1 A360T
  275. PSEN1 V142I
  276. PSEN1 P433S
  277. PSEN1 T122A
  278. PSEN1 V393F
  279. PSEN1 A137T
  280. PSEN1 W203C
  281. PSEN1 I249L
  282. PSEN1 T119I
  283. PSEN1 G111V
  284. PSEN1 G417A
  285. PSEN1 L424P
  286. PSEN1 F386L
  287. PSEN1 I227V
  288. PSEN1 R42L
  289. PSEN1 P303L
  290. PSEN1 Q15H
  291. PSEN1 N39Y
  292. PSEN1 V261I
  293. PSEN1 Y256N
  294. PSEN1 H214R
  295. PSEN1 T116_P117delinsST
  296. PSEN1 Y159F
  297. PSEN1 P242Lfs
  298. PSEN1 V272D
  299. PSEN1 F175del
  300. PSEN1 Y389S
  301. PSEN1 L282P
  302. PSEN1 Y389H
  303. PSEN1 Y159C
  304. PSEN1 A285S
  305. PSEN1 A260G
  306. PSEN1 P355S
  307. PSEN1 R41S
  308. PSEN1 V103G
  309. PSEN1 P49L
  310. PSEN1 G371C
  311. PSEN1 G378R