Table 1.

Tau mutations and polymorphism

Mutation	Location	Domain in tau protein or gene	Nucleotide change	Ref.
N279K	E10	IR1-2	AAT → AAG	17
Δ280K	E10	IR1-2	3-bp deletion	24
L284L	E10	IR1-2	CTT → CTC	This study
P301L	E10	R2	CCG → CTG	10, 12, 17
S305N	E10/5′ splice site	IR2-3	AGT → AAT	25
E10 + 3	I10	5′ splice site	g → a	11
E10 + 14	I10	Intronic	c → t	10
E10 + 16	I10	Intronic	c → t	10
E10 + 29	I10	Intronic	g or a	This study

Inter repeat (IR) regions are sequences between the MT-binding domains (e.g., IR1–2 is between MT binding domains 1 and 2). The sites of I10 mutations are designated by the number of the intronic base that is mutated. E10 + 29 is a polymorphism with either an G or A at intronic nucleotide 29 with allele frequencies of 0.98 and 0.02, respectively, as determined in a Caucasian population (n = 96).