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Table 4 Overview of ACTG1 mutations described in DFNA20/26

From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

No.

Mutation

Protein change

Exon

Sub-domain

Origin

Age of onset

Reference

1

c.151G > A

p.D51N

3

2

Dutch

1st decade

[15]

2

c.266C > T

p.T89I

3

1

American

3rd decade

[13]

3

c.353A > T

p.K118M

3

1

American

1st or 2nd decade

[13]

4

c.354G > C

p.K118N

3

1

Spanish

1st or 2nd decade

[16]

5

c.364A > G

p.I122V

4

1

Chinese

1st decade

[3]

6

c.559G > C

p.D187H

4

4

Korean

1st decade

[17]

7

c.638A > G

p.K213R

4

4

Chinese

2nd decade

Present study

8

c.721G > A

p.E241K

4

4

Spanish

1st decade

[16]

9

c.791C > T

p.P264L

4

4

American

1st or 2nd decade

[13]

10

c.833C > T

p.T278I

5

3

Dutch

1st or 2nd decade

[14]

11

c.914 T > C

p.M305T

5

3

Korean

3rd decade

[11]

12

c.994C > G

p.P332A

6

3

American

2nd decade

[13]

13

c.1109 T > C

p.V370A

6

C-terminal

Norwegian

1st or 2nd decade

[10]