Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in MAPT

Mutation

Exon /
Domain

Citations

1

MAPT Leu315Arg
   (g.127672T>G)

EX11
IR2-3

Rosso SM, 2003
van Herpen E, 2003

2

MAPT Leu315
   (g.127673G>A)

EX11
IR2-3

Bird T, 2005

3

MAPT Lys317Met
   (g.127678A>T)

EX11
IR2-3

Zarranz JJ, 2004
Zarranz JJ, 2005

4

MAPT Ser320Phe
   (g.127687C>T)

EX11
R3

Rosso SM, 2002
Rosso SM, 2003
Rohrer JD, 2009
Rohrer JD, 2010


Selection: Gene = MAPT EX11



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