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Table 1 Clinical findings and predicted the effects of the mutations identified in this study

From: Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

No.

Incidence

AI

UI

Party of lesions

Amid-acid substitution

Exon

Mutation type

Predicted mutation effects

SIFT

Polyphen 2.0

DDIG-in

1

Familial

3

7

Back of hands and feet

p.R1030DfsX1036

12

Frameshift

D

-

D

2

Familial

7

19

Back of hands and feet, ankles, forearms, neck, face

p.Stop1227R

15

Nonstop

-

-

-

3

Familial

6

11

Back of hands and feet, ankles, forearms, face

p.G803VfsX807

7

Frameshift

D

-

D

4

Familial

5

18

Back of hands and ankles

p.R360X

2

Nonsense

-

-

D

5

Familial

4

8

Back of hands and feet, face

p.D1147VfsX1184

14

Frameshift

D

-

D

6

Familial

4

6

Back of hands and feet

p.R474X

2

Nonsense

-

-

D

7

Familial

4

4

Back of hands and feet, forearms

p.R1083H

13

Missense

D

D

-

1

Sporadic

1

0

Back of hands and feet,face

p.W768X

7

Nonsense

-

-

D

2

Sporadic

1

0

Back of hands and feet, face

-

-

-

-

-

-

  1. AI Affected Individuals, UI Unaffected Individuals, D Damaging; −: Not available