Table 1

Mutations in the tau gene that are identified in FTDP-17 patients

Exon or intron

Mutations


EX1

Arg5His

EX9

Ile260Val; Leu266Val; Gly272Val

EX10

Asn279Lys; ΔK280; ΔK281; Asn296His; Pro301Thr; Pro301Ser; Pro301Leu; Gly303Val; Ser305Asn

EX11

Leu315Arg; Lys317Met; Ser320Phe

EX12

Gly335Ser; Gly335Val;Gln336Arg; Val363Ile; Val337Met; Glu342Val; Ser352Leu; Lys369Ile

EX13

Arg406Trp; Thr427Met

IVS9

-10G>T

EX10

Asn279Lys; ΔK280; Asn296; Leu284; Ser305, Asn296His; Pro301Thr

IVS10

+3G>A; +11T>C; +12C>T; +13A>G; +14C>T; +16C>T; +19C>G


Data are derived from http://www.molgen.ua.ac.be/ftdmutations webcite. Mutations in bold affect exon 10 splicing. IVS, intervening sequence.

Zhou et al. BMC Neuroscience 2008 9(Suppl 2):S10   doi:10.1186/1471-2202-9-S2-S10

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