Bagyinszky E, Kim M, Park YH, An SS, Kim S. PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability. Int J Mol Sci. 2023 Dec 21;25(1) PubMed.

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Mutations

  1. PSEN1 H214D
  2. PSEN1 H214Y
  3. PSEN1 H214N
  4. PSEN1 H214R