Table 3.
Mutations of the ADAR1 gene identified in this study
|
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 |