Table 3 Mutations of the ADAR1 gene identified in this study
From: Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
Patient | Part of lesions | Mutation | Mutation effect | ||
|---|---|---|---|---|---|
Nucleotide changes | Amino-acid changes | Exon | |||
1 | Back of hands and feet | c.556C > T | p.Gln186X | 2 | Nonsense |
2 | Back of hands and feet | c.3001C > T | p.Arg1001Cys | 11 | Missense |
3 | Back of hands and feet, ankles | c.1936_1937insTG | p.Phe646LeufsX16 | 5 | Frameshift |
4 | Back of hands and feet, face | c.1065_1068delGACA | p.Asp357ArgfsX47 | 2 | Frameshift |
5 | Back of hands and feet, face | c.1601G > A | p.Gly471AspfsX30 | 2 | Splicing |
6 | Back of hands and feet | c.2744C > T | p.Ser915Phe | 9 | Missense |
7 | Back of hands and feet | c.3463C > T | p.Arg1155Trp | 15 | Missense |