Table 1 Properties of the individual ATP7B mutants characterized in this study.
Mutation | Domain | Cu-transport | Eumelanin signal (area × intensity) | Subcellular localization | Cu-dependent trafficking | Intracellular Cu compared to WT |
|---|---|---|---|---|---|---|
Ala595Thr | MBD6 | Yes | 7.91 ± 23.04 | Golgi and vesicles | Yes | High |
Gly1061Glu | N- domain | No | NA | ER retained | No | High |
Gly1101Arg | N domain | No | NA | ER retained | No | High |
Ser1362Ala | TM-8 | Yes | 1.69 ± 1.82 | Golgi retained | No | High |
Ser1426Ile | C-terminal | Yes | 5.13 ± 11.52 | Golgi and vesicles | Yes | No difference |
