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Characteristic of FAD subjects in the Polish population
| Mutation in PS1 and its localizationa | MMSE | ApoE |
|---|---|---|
| PS1 M139 V, TDa II | 7 | E3/E3 |
| PS1 L153 V, TD II | 18 | E3/E3 |
| PS1 H163R, TD III | 11 | E3/E3 |
| PS1 S170F, TD III | 11 | E3/E3 |
| PS1 F177 L, TD III | 21 | E3/E3 |
| PS1 I213F, TD IV | 0 | E3/E4 |
| PS1 E318G, L II | 26 | E3/E3 |
aLocalization of FAD mutations in the PS1 structure is based on nine transmembrane PS1 model [78]
TD transmembrane domain, L loop
