Mutation

Exon /
Domain

Citations

1

VCP Arg155Ser
   (g.6990C>A)

EX5
CDC48

Stojkovic T, 2009

2

VCP Arg155Cys
   (g.6990C>T)

EX5
CDC48

Watts GD, 2004
Schröder R, 2005
Guyant-Maréchal L, 2006
Hübbers CU, 2007
Gidaro T, 2008
Stojkovic T, 2009
Kim EJ, 2011
Shi Z, 2012

3

VCP Arg155His
   (g.6991G>A)

EX5
CDC48

Watts GD, 2004
Hübbers CU, 2007
Viassolo V, 2008
Stojkovic T, 2009
Tresse E, 2010
Shi Z, 2012

4

VCP Arg155Pro
   (g.6991G>C)

EX5
CDC48

Watts GD, 2004

5

VCP Gly157Arg
   (g.6996G>C)

EX5
CDC48

Djamshidian A, 2009
Stojkovic T, 2009

6

VCP Arg159Cys
   (g.7002C>T)

EX5
CDC48

Spina S, 2008
Spina S, 2008
Bersano A, 2009

7

VCP Arg159His
   (g.7003G>A)

EX5
CDC48

Haubenberger D, 2005
van der Zee J, 2007
van der Zee J, 2008
Stojkovic T, 2009
van der Zee J, 2009

8

VCP Arg191Gln
   (g.7099G>A)

EX5
Linker 1

Watts GD, 2004
Spina S, 2008
Spina S, 2008
Stojkovic T, 2009
Shi Z, 2012

9

VCP Arg155Leu
   (g.6991G>T)
   Pathogenic nature unclear

EX5
CDC48

Kumar KR, 2010