Frieden C. ApoE: the role of conserved residues in defining function. Protein Sci. 2015 Jan;24(1):138-44. Epub 2014 Dec 9 PubMed.

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Mutations

  1. APOE Loss of Function Variants
  2. APOE R132P
  3. APOE R132C (Tsukuba)
  4. APOE R154S (Christchurch)
  5. APOE R154C
  6. APOE R154fs
  7. APOE R154H
  8. APOE R160S
  9. APOE R160C
  10. APOE R160L
  11. APOE K164Q
  12. APOE K164E
  13. APOE K164_R165delinsNW
  14. APOE R165P (Chicago)
  15. APOE R168H
  16. APOE R168C
  17. APOE R168G (Okayama)
  18. APOE R168P
  19. APOE D169dup
  20. APOE L173P
  21. APOE R176P (Osaka/Kurashiki)
  22. APOE R165W