Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in VCP

Mutation

Exon /
Domain

Citations

1

VCP Arg93Cys
   (g.4438C>T)

EX3
CDC48

Guyant-Maréchal L, 2006
Hübbers CU, 2007
Krause S, 2007
Shi Z, 2012

2

VCP Arg95Gly
   (g.4444C>G)

EX3
CDC48

Watts GD, 2004

3

VCP Arg95Cys
   (g.4444C>T)

EX3
CDC48

Kimonis VE, 2008

4

VCP Arg95His
   (g.4445G>A)

   Pathogenic nature unclear

EX3
CDC48

Kaleem M, 2007

5

VCP Pro137Leu
   (g.5644C>T)

EX4
CDC48

Stojkovic T, 2009

6

VCP Arg155Ser
   (g.6990C>A)

EX5
CDC48

Stojkovic T, 2009

7

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

8

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

9

VCP Arg155Pro
   (g.6991G>C)

EX5
CDC48

Watts GD, 2004

10

VCP Arg155Leu
   (g.6991G>T)

EX5
CDC48

Kumar KR, 2010

11

VCP Gly157Arg
   (g.6996G>C)

EX5
CDC48

Djamshidian A, 2009
Stojkovic T, 2009

12

VCP Arg159Cys
   (g.7002C>T)

EX5
CDC48

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

13

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

14

VCP Arg191Gln
   (g.7099G>A)

EX5
Linker 1

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

15

VCP Leu198Trp
   (g.8085T>G)

EX6
Linker 1

Watts GD, 2007
Kumar KR, 2010

16

VCP Ala232Glu
   (g.8187C>A)

EX6
AAA D1

Watts GD, 2004
Tresse E, 2010

17

VCP Thr262Ala
   (g.9349A>G)

EX7
AAA D1

Spina S, 2008
Spina S, 2008

18

VCP Asn387His
   (g.10742A>C)

EX10
AAA D1

Watts GD, 2007

19

VCP Ala439Pro
   (g.11295G>C)

EX11
AAA D1

Shi Z, 2012

20

VCP Ala439Ser
   (g.11295G>T)

EX11
AAA D1

Stojkovic T, 2009


Selection: Gene In (VCP)



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