Holstege H, deWaal MW, Tesi N, vanderLee SJ, ADESconsortium, ADSPconsortium, StEP-ADconsortium, Knight-ADRC, UCSF/NYGC/UAB, Vogel M, vanSpaendonk R, Hulsman M, Andersen OM. Effect of prioritized SORL1 missense variants supports clinical consideration for familial Alzheimer's Disease. 2023 Jul 16 10.1101/2023.07.13.23292622 (version 1) medRxiv.

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Mutations

  1. SORL1 S1148R
  2. SORL1 L1617V
  3. SORL1 P1619Q
  4. SORL1 E270K
  5. SORL1 A528T (SNP 13)
  6. SORL1 R953H
  7. SORL1 R1080C
  8. SORL1 G1220R
  9. SORL1 G1258S
  10. SORL1 G1298R
  11. SORL1 G1440R (G>A)
  12. SORL1 G1440R (G>C)
  13. SORL1 G1440V
  14. SORL1 G1493S
  15. SORL1 G1493D
  16. SORL1 G1536S
  17. SORL1 G1536D
  18. SORL1 G1681D
  19. SORL1 G1732A
  20. SORL1 D2065V
  21. SORL1 A2173T
  22. SORL1 S2175R (C>A)
  23. SORL1 S2175R (C>G)
  24. SORL1 H2176R

News

  1. When Missense Variants Derail SORL1 Traffic, Destination Is Dementia