Skip to main content

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