Table 3.

Tau mutations in FTDP-17

Mutation	Location	Exon 10 splicing	MT binding	Phenotype	Reference
R5H	Exon 1	No change	Reduced	FTDP-17	18
R5L	Exon 1	No change	Reduced	PSP-like	19
K257T	E9, R1	No change	Reduced	PiD-like	20,21
I260V	E9, R1	ND	ND	NA	22
L266V	E9, R1	Decreased*	Reduced	PiD-like	23
G272V	E9, R1	No change	Reduced	FTDP-17	24
E9 + 33	I9	ND	NA	NA	25
N279K	E10, IR1–2	Increased†	Variable	PSP-like	26
ΔK280	E10, IR1–2	Decreased	Reduced	FTDP-17	25
L284L	E10, IR1–2	Increased	NA	AD-like	27
N296N	E10, R2	Increased	NA	CBD-like	28
N296H	E10, R2	Increased	Decreased	FTDP-17	29
ΔN296	E10, R2	No change	Decreased	PSP-like	30
P301L	E10, R2	No change	Reduced	FTDP-17	24
P301S	E10, R2	No change	Reduced	CBD-like, FTDP-17	31,32
S305N	E10, IR2–3	Increased	No effect	CBD-like	33,34
S305S	E10, IR2–3	Increased	NA	PSP-like	35
E10 + 3	I10	Increased	NA	FTDP-17	36
E10 + 11	I10	Increased	NA	FTDP-17	37
E10 + 12	I10	Increased	NA	FTDP-17	38
E10 + 13	I10	Increased	NA	NA	24
E10 + 14	I10	Increased	NA	PSP-like, FTDP-17	24
E10 + 16	I10	Increased	NA	AD-, PiD-, PSP-, CBD-like, FTDP-17	24,39
L315R	E11	No change	Reduced	PiD-like	40
S320F	E11	No change	Reduced	PiD-like	41
Q336R	E12	No change	Increased	PiD-like	42
V337M	E12, IR3–4	No change	Reduced	FTDP-17	43
E342V	E12, IR3–4	Increased	ND	FTDP-17	44
S352L	E12, IR3–4	ND	No effect	Atypical	45
K369I	E12, IR3–4	ND	Reduced	PiD-like	46
G389R	E13	No change	Reduced	PiD-like	47
R406W	E13	No change	Reduced	PSP-like	24

E = exon; I = intron; R = MT binding repeat; IR = inter-repeat regions; ND = not determined; NA = not applicable.

^*Decreased indicates reduced exon 10 utilization.

^†Increased indicates enhanced exon 10 utilization.