| Mutation: | Cuproenzyme biosynthesis | Catalytic ATPase activity | Localisation | Post-translational modifications | Protein–protein interactions | |||||
| G85V | Extensive ER mislocalisation149 | Decreased interaction with ATOX1176 | ||||||||
| Increased interaction with COMMD1149 | ||||||||||
| L492S | Decreased interaction with ATOX1176 | |||||||||
| Increased interaction with COMMD1149 | ||||||||||
| G591D | Extensive ER mislocalisation149 | Absence of copper-induced phosphorylation152 | Decreased interaction with ATOX1176 | |||||||
| Increased interaction with COMMD1149 | ||||||||||
| A604P | Increased interaction with COMMD1149 | |||||||||
| R616W | Normal, TGN126 | |||||||||
| G710S | Normal, TGN126 | |||||||||
| P760L | Normal, TGN126 | |||||||||
| D765N | Normal rescue ΔCcc2 yeast143 | Partial ER mislocalisation126 127 | ||||||||
| Reduced copper response127 | ||||||||||
| M769V | Normal rescue ΔCcc2 yeast143 | Normal, TGN126 127 | ||||||||
| Copper response unaffected127 | ||||||||||
| L776V | Normal rescue ΔCcc2 yeast143 | Partial ER mislocalisation127 | ||||||||
| Reduced copper response127 | ||||||||||
| R778Q | Reduced rescue ΔCcc2 yeast143 | |||||||||
| R778L | Reduced rescue ΔCcc2 yeast143 | Extensive ER mislocalisation127 | ||||||||
| Copper response absent127 | ||||||||||
| W779X | Cytoplasmic clusters126 | |||||||||
| Copper response absent126 | ||||||||||
| G943S | Normal rescue ΔCcc2 yeast143 | Normal, TGN127 | ||||||||
| Copper response absent127 | ||||||||||
| R969Q | Normal, TGN126 | |||||||||
| T997M | No rescue ΔCcc2 yeast143 | |||||||||
| V995A | Normal rescue ΔCcc2 yeast143 | |||||||||
| P992L | Reduced rescue ΔCcc2 yeast143 | Normal, TGN126 | ||||||||
| E1064A | Absence of ATP binding117 | |||||||||
| H1069Q | No rescue ΔCcc2 yeast105 | Absence of ATP binding,117 Absence of ATP hydrolysis activity214 | Extensive ER mislocalisation,126 148 mislocalisation to aggrosomes144 | |||||||
| Reduced rescue ΔCcc2 yeast260 | ||||||||||
| R1115H | Slightly decreased ATP binding117 | |||||||||
| N1270S | Reduced ATP hydrolysis activity214 | Normal, TGN126 | ||||||||
| Normal, endosome144 |
ER, endoplasmic reticulum; TGN, trans-Golgi network.