Table 2 Tau mutations associated with FTDP-17
Mutation | Location | E10 inclusion | MT-binding | Insoluble tau | Phenotype |
|---|---|---|---|---|---|
R5L | Exon 1 | Â | Â | Mainly 4R | PSP-like |
R5H R | Exon 1 | Â | Â | 4R+1N3 | AD-like |
K257T | Exon 9 |  | ↓ | 3R > 4R | PiD-like |
I260V | Exon 9 | Â | Â | Mainly 4R | Â |
L266V | Exon 9 | ↓ | ↓ | Mainly 3R | PiD-like |
G272V | Exon 9 | → | ↓ | Mainly 3R | PiD-like |
E9+33 | Intron 9 | ↓ |  |  |  |
N279K | Exon 10 | ↑ | Variable | Mainly 4R | PSP-like |
Δ280K | Exon 10 | ↓ | ↓ | 3R>>4R | FTDP-17 |
L284L | Exon 10 | ↑ | → | 4R? | AD-like |
N296N | Exon 10 | ↑ | → | Mainly 4R | CBD-like |
N296H | Exon 10 | ↑ |  | Mainly 4R | FTDP-17 |
Δ296N | Exon 10 |  | ↓ |  | PSP-like |
P301L | Exon 10 | → | ↓ | Mainly 4R | FTDP-17 |
P301S | Exon 10 | ↑ |  | Mainly 4R | FTDP-17, CBD-like |
G303V | Exon 10 | ↑ |  | Mainly 4R | PSP-like |
S305N | Exon 10 | ↑ | → | Mainly 4R | CBD-like |
S305S | Exon 10 | ↑ |  | Mainly 4R | PSP-like |
S305I | Exon 10 | ↑ |  | Mainly 4R | AGD |
E10+3 | Intron 10 | ↑ | → |  | FTDP-17 |
E10+11 | Intron 10 | ↑ | → |  | FTDP-17 |
E10+12 | Intron 10 | ↑ | → | Mainly 4R | FTDP-17 |
E10+13 | Intron 10 | ↑ | → |  | FTDP-17 |
E10+14 | Intron 10 | ↑ | → | Mainly 4R | FTDP-17, PSP-like |
E10+16 | Intron 10 | ↑ | → | Mainly 4R | PSP/CBD-like |
E10+19 | Intron 10 | ↓ | → |  |  |
E10+29 | Intron 10 | ↓ | → |  |  |
L315 R | Exon 11 | → | ↓ |  | PiD-like |
L315L | Exon 11 |  | → |  |  |
S320F | Exon 11 | → | ↓ |  | PiD-like |
S320Y | Exon 11 | Â | Â | Â | PiD-like |
Q336R | Exon 12 | → | ↑ |  | PiD-like |
V337M | Exon 12 | → | ↓ |  | FTDP-17 |
E342V | Exon 12 | ↑ |  | Mainly 4R | FTDP-17, PiD-like |
S352V | Exon 12 | Â | Â | Â | Â |
K369I | Exon 12 | Â | Â | 3R + 4R | PiD-like |
G389R | Exon 13 | → | ↓ | 4R > 3R | PiD-like |
R406W | Exon 13 | → |  | 3R + 4R | PSP-like |