Table 5.
Information of ATP7B mutations in WD patients with onset age less than 12 years old
| Mutation | Location | Function region | Mutation type | No. of Total patient with the mutation | No. of ≤ 12 years patient with the mutation |
|---|---|---|---|---|---|
| c.1708-1G>C | Intron 4 | Splicing | 2 | 1 | |
| c.1745_1746 delTA | Exon 5 | MBD6 | Deletion | 1 | 1 |
| c.2012_2013insATAT | Exon 7 | TMS1 | Insertion | 1 | 1 |
| c.2304_2305 insC | Exon 8 | TMS4 | Insertion | 4 | 2 |
| c.2333G>T | Exon 8 | TMS4 | Missense | 31 | 9 |
| c.2561A>G | Exon 10 | ATPase | Missense | 1 | 1 |
| c.2662A>C | Exon 11 | ATPase | Missense | 3 | 1 |
| c.2828G>A | Exon 12 | Missense | 1 | 1 | |
| c.2924C>A | Exon 13 | TMS6 | Missense | 1 | 1 |
| c.2975C>T | Exon 13 | TMS6 | Missense | 10 | 7 |
| c.3061-3C>A | Intron 13 | Splicing | 1 | 1 | |
| c.3443T>C | Exon 16 | ATP bind | Missense | 9 | 1 |
| c.3445G>A | Exon 16 | ATP bind | Missense | 1 | 1 |
| c.3584C>T | Exon 17 | HAD | Missense | 1 | 1 |
| c.3679G>C | Exon 17 | HAD | Missense | 1 | 1 |
| c.3809A>G | Exon 18 | HAD | Missense | 4 | 3 |
| c.3843_3844insT | Exon 18 | HAD | Insertion | 1 | 1 |
| c.748G>A | Exon 2 | Missense | 1 | 1 | |
| EX2 DEL | Exon 2 | Deletion | 2 | 1 |