Mutation

Exon /
Domain

Citations

1

GRN Met1
   (g.1A>G)

EX2
Signal peptide

Le Ber I, 2008

2

GRN Met1
   (g.2T>C)

EX2
Signal peptide

Baker M, 2006
Gass J, 2006

3

GRN Met1
   (g.3G>A)

EX2
Signal peptide

Cruts M, 2006

4

GRN Val5Leu
   (g.13G>C)
   Pathogenic nature unclear

EX2
Signal peptide

López de Munain A, 2008

5

GRN Trp7Arg
   (g.19T>C)
   Pathogenic nature unclear

EX2
Signal peptide

Le Ber I, 2008

6

GRN Ala9Asp
   (g.26C>A)

EX2
Signal peptide

Mukherjee O, 2006
Gass J, 2006
Spina S, 2007
Ghetti B, 2008
Mukherjee O, 2008
Spina S, 2008
Kelley BJ, 2009

7

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

EX2
Signal peptide

Guerreiro RJ, 2008
Guerreiro RJ, 2010

8

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

EX2
ParaGran

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

9

GRN Asp22fs
   (g.63_64insC)

EX2
ParaGran

Gass J, 2006
Pietroboni AM, 2011

10

GRN Cys31fs
   (g.90_91insCTGC)

EX2
ParaGran

Baker M, 2006
Gass J, 2006
Beck J, 2008
Rohrer JD, 2008
Rohrer JD, 2009
Yu CE, 2010
Rohrer JD, 2010

11

GRN Asp33Glu
   (g.99C>A)
   Pathogenic nature unclear

EX2
ParaGran

Brouwers N, 2008
Nuytemans K, 2008

12

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

13

GRN Gly35fs
   (g.102delC)

EX2
ParaGran

Gass J, 2006
Chiang HH, 2008
Skoglund L, 2009

14

GRN Pro34
   (g.102C>T)
   Pathogenic nature unclear

EX2
ParaGran

van der Zee J, 2007
Le Ber I, 2007

15

GRN Gly35Arg
   (g.103G>A)
   Pathogenic nature unclear

EX2
ParaGran

Galimberti D, 2008
Cortini F, 2008