Strang KH, Golde TE, Giasson BI. MAPT mutations, tauopathy, and mechanisms of neurodegeneration. Lab Invest. 2019 Jul;99(7):912-928. Epub 2019 Feb 11 PubMed.

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Mutations

  1. MAPT G272V
  2. MAPT K281del (K280del)
  3. MAPT P301S
  4. MAPT P301L
  5. MAPT S305N
  6. MAPT S320F
  7. MAPT V337M
  8. MAPT G389R (G>A)
  9. MAPT G389R (G>C)
  10. MAPT R406W