| Mutation | Cuproenzyme biosynthesis | Catalytic ATPase activity | Localisation | Post-translational modifications | Protein–protein interactions | ||||
| A629P | Reduced rescue ΔCcc2 yeast106 | ||||||||
| S637L | Reduced rescue ΔCcc2 yeast205 | ||||||||
| R844H | No signal observed, protein absent in patient fibroblasts258 | ||||||||
| G860V | No signal observed, protein absent in patient fibroblasts258 | ||||||||
| L873R | No rescue ΔCcc2 yeast114 | Increased formation of acylphosphate intermediate114 | Cell periphery and plasma membrane,114 no copper response114 | ||||||
| G876R | No signal observed, protein absent in patient fibroblasts258 | ||||||||
| Q924R | Partial in cell periphery258 | ||||||||
| C1000R | No tyrosinase activity142 | Normal, TGN,114 258 no copper response114 | |||||||
| A1007V | Normal, TGN258 | ||||||||
| G1015D | Normal, TGN258 | ||||||||
| G1019D | Reduced rescue ΔCcc2 yeast106 | Partial ER mislocalisation,146 copper response present146 | Impaired glycosylation146 | ||||||
| D1044G | Normal, TGN258 | ||||||||
| K1282E | Normal, TGN258 | ||||||||
| G1300E | Normal, TGN258 | ||||||||
| G1302V | Partial in cell periphery258 | ||||||||
| N1304S | Reduced rescue ΔCcc2 yeast259 | ||||||||
| N1304K | Normal, TGN258 | ||||||||
| D1305A | Normal, TGN258 | ||||||||
| G1315R | Normal, TGN258 | ||||||||
| A1325V | No signal observed, protein absent in patient fibroblasts258 | ||||||||
| A1362D | Reduced rescue ΔCcc2 yeast205 | ||||||||
| A1362V | Normal, TGN, no copper response141 | ||||||||
| G1369R | No signal observed, protein absent in patient fibroblasts258 | ||||||||
| S1397F | Normal, TGN258 |
ER, endoplasmic reticulum; TGN, trans-Golgi network.