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.