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Table 2 Tau mutations associated with FTDP-17

From: Tau exon 10 alternative splicing and tauopathies

Mutation Location E10 inclusion MT-binding Insoluble tau Phenotype
R5L Exon 1    Mainly 4R PSP-like
R5H R Exon 1    4R+1N3 AD-like
K257T Exon 9   3R > 4R PiD-like
I260V Exon 9    Mainly 4R  
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     PiD-like
Q336R Exon 12   PiD-like
V337M Exon 12   FTDP-17
E342V Exon 12   Mainly 4R FTDP-17, PiD-like
S352V Exon 12     
K369I Exon 12    3R + 4R PiD-like
G389R Exon 13 4R > 3R PiD-like
R406W Exon 13   3R + 4R PSP-like
  1. ↑, increased; ↓, decreased; →, unchanged.