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Known Mutation List


Listed below are known human mutations in the CCM3 gene from published journal articles and other communication:

Human CCM3 Mutations
Compiled by David McDonald & Dr. Amy Akers

Exon*

Mutation

Reference(s)

All

Deletion of entire gene

Bergametti 2005; Labauge 2006; Liquori 2007

5

Deletion of exon 5

Bergametti 2005

5

c.103C>T; R35X

Bergametti 2005; Lee 2008

5

c.113-114delTG

F. Riant & E. Tournier-Lasserve (unpublished)

6

c.180delA

Akers (unpublished)

6

c.192delA

Guclu 2005

6

c.205_211insA

Akers 2009

6

c.223delA

Guclu 2005

7

c.283C>T; R95X

Guclu 2005, Verlaan 2005

7

c.322C>T; R108X

Akers (unpublished)

7

c.350_351insT

Stahl 2008

7

c.385C>T; Q129X

Bergametti 2005

8; Splicing

c.396-3C>G

F. Riant & E. Tournier-Lasserve (unpublished)

8; Splicing

c.396-2A>G

Verlaan 2005

8

c.402_403dupTA

F. Riant & E. Tournier-Lasserve (unpublished)

8

c.456T>G

F. Riant & E. Tournier-Lasserve (unpublished)

8; Splicing

c.474+1G>A

Liquori 2006

8; Splicing

c.474+2T>C

F. Riant & E. Tournier-Lasserve (unpublished)

8; Splicing

c.474+5G>A

Liquori 2006

9; Splicing

c.475-1G>A

Bergametti 2005

9

c.534delA

Guclu 2005

9

c.556_557+2delAAGT

Bergametti 2005

9

c.557+1G>C

F. Riant & E. Tournier-Lasserve (unpublished)

10

c.586C>T; R196X

Bergametti 2005

10

c.608T>G; L203X

Liquori 2006

*where exon 4 is the first coding exon