Mutation

Exon /
Domain

Citations

1

GRN Leu14
   (g.42G>A)
   Not pathogenic

EX2
Signal peptide

Guerreiro RJ, 2008
Guerreiro RJ, 2010

2

GRN Arg19Trp
   (g.55C>T)
   Not pathogenic

EX2
ParaGran

Gass J, 2006
Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011

3

GRN Asp33
   (g.99C>T)
   Not pathogenic

EX2
ParaGran

Gass J, 2006
van der Zee J, 2007
Schymick J, 2007
Le Ber I, 2007
Mukherjee O, 2008
Sleegers K, 2008
Cortini F, 2008
Chiang HH, 2008
Guerreiro RJ, 2010
Del Bo R, 2011

4

GRN Arg55Trp
   (g.286A>T)
   Not pathogenic

EX3
InterParaG

Guerreiro RJ, 2010

5

GRN Ala69Thr
   (g.328G>A)
   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

6

GRN Thr76
   (g.351C>T)
   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

7

GRN Ala89
   (g.505C>T)
   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

8

GRN Asp108
   (g.562C>T)
   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

9

GRN Asn119del
   (g.1069_1071delAAC)
   Not pathogenic

EX5
InterGF

Guerreiro RJ, 2010

10

GRN Ser120Tyr
   (g.1073C>A)
   Not pathogenic

EX5
InterGF

Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011

11

GRN Asp128
   (g.1098T>C)
   Not pathogenic

EX5
GranF

Gass J, 2006
van der Zee J, 2007
Guerreiro RJ, 2008
Sleegers K, 2008
Tremolizzo L, 2009
Guerreiro RJ, 2010
Del Bo R, 2011

12

GRN Pro134
   (g.1116G>A)
   Not pathogenic

EX5
GranF

Guerreiro RJ, 2010

13

GRN Ala169
   (g.1322C>G)
   Not pathogenic

EX6
GranF

Guerreiro RJ, 2010

14

GRN Thr182Met
   (g.1360C>T)
   Not pathogenic

EX6
InterFB

Bronner IF, 2007
Schymick J, 2007
Guerreiro RJ, 2008
Guerreiro RJ, 2010

15

GRN Thr182
   (g.1361G>A)
   Not pathogenic

EX6
InterFB

Guerreiro RJ, 2010

16

GRN Cys221Ser
   (g.1590G>C)
   Not pathogenic

EX7
GranB

Guerreiro RJ, 2010

17

GRN Ser262
   (g.1950C>T)
   Not pathogenic

EX8
InterBA

Guerreiro RJ, 2010

18

GRN Asp376Asn
   (g.2578G>A)
   Not pathogenic

EX10
GranC

Guerreiro RJ, 2010

19

GRN Ser398Leu
   (g.2864C>T)
   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

20

GRN Thr409
   (g.2898G>A)
   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

21

GRN Arg433Gln
   (g.2969G>A)
   Not pathogenic

EX11
InterCD

Mukherjee O, 2008
Guerreiro RJ, 2010

22

GRN Ala505
   (g.3278C>T)
   Not pathogenic

EX12
InterDE

Guerreiro RJ, 2010

23

GRN Gly515Ala
   (g.3307G>C)
   Not pathogenic

EX12
InterDE

Gass J, 2006
van der Zee J, 2007
Brouwers N, 2008
Guerreiro RJ, 2010

24

GRN Asp518
   (g.3317C>T)
   Not pathogenic

EX12
GranE

Guerreiro RJ, 2010
Del Bo R, 2011

25

GRN Arg564His
   (g.3543G>A)
   Not pathogenic

EX13
GranE

Guerreiro RJ, 2010

26

GRN Cys565
   (g.3547C>T)
   Not pathogenic

EX13
GranE

van der Zee J, 2007
Le Ber I, 2007
Guerreiro RJ, 2010

Mutation

Exon /
Domain

Citations

1

MAPT His14
   (g.75784C>T)
   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

2

MAPT Thr17Met
   (g.75792C>T)
   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

3

MAPT Tyr18
   (g.75796C>T)
   Not pathogenic

EX1
N-Term

Houlden H, 1999
Guerreiro RJ, 2010

4

MAPT Thr30Ala
   (g.75830A>G)
   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

5

MAPT Pro200
   (g.109848C>T)
   Not pathogenic

EX9

Guerreiro RJ, 2010

6

MAPT Ala227
   (g.109929A>G)
   Not pathogenic

EX9

Rizzu P, 1999
Baker M, 1999
Houlden H, 1999
Roks G, 1999
Poorkaj P, 2001
Ingelson M, 2001
Levchenko A, 2004
Stanford PM, 2004
Guerreiro RJ, 2010

7

MAPT Asn255
   (g.110013T>C)
   Not pathogenic

EX9

Poorkaj P, 1998
Rizzu P, 1999
Baker M, 1999
Houlden H, 1999
Roks G, 1999
Poorkaj P, 2001
Ingelson M, 2001
Levchenko A, 2004
Stanford PM, 2004
Guerreiro RJ, 2010

8

MAPT Leu266
   (g.110046G>A)
   Not pathogenic

EX9
R1

Guerreiro RJ, 2010

9

MAPT Pro270
   (g.110058G>A)
   Not pathogenic

EX9
R1

Rizzu P, 1999
Houlden H, 1999
Poorkaj P, 2001
Levchenko A, 2004
Stanford PM, 2004
Guerreiro RJ, 2010

10

MAPT Val300Ile
   (g.123786G>A)
   Not pathogenic

EX10
R2

Guerreiro RJ, 2010