. Author manuscript; available in PMC: 2019 Feb 6.

Published in final edited form as: Metallomics. 2012 Jun 13;4(7):669–678. doi: 10.1039/c2mt20025b

Table 1. Potential functional residues in the ATP7B membrane domain (Fig. 5).

Residues in ATP7B, location in model, conservation level according to ConSurf grades (Fig. 1A and B), corresponding LCopA residues and attributed site. Detected clinical mutations, and available experimental evidence are specified as well. Green shades mark potential functional positions that are unique to ATP7B, matched to LCopA positions that are unlikely to possess a similar functional role owing to their different physicochemical nature (shaded in red)

Residue	Location	Con.	Equivalent LCopA	Con. LCopA	Site	Clinical mutations	Experimental evidence
N728	TM3	9	N147	9	Entry	N728D	-
M729	TM3	9	M148	9	Entry	M729V	-
D730	TM3	9	F149	9	Entry	-	-
R778	TM4	8	Q202	9	Entry	R778G/W/L	Lower stability and abnormal localization⁹
E781	TM4	9	E205	9	Entry	-	-
K785	TM4	8	R209	8	Entry	-	-
D918	TM5	9	D337	9	Entry	D918N/A/E	-
E1016	After TM6	9	E415	9	Entry	-	-
C980	TM6	9	1379	9	Site	C980Y	-
C983	TM6	9	C382	9	Site	-	-
C985	TM6	9	C384	9	Site	C985Y	-
Y1331	TM7	9	Y668	9	Site	Y1331S	-
N1332	TM7	9	N669	9	Site	N1332D/K	-
M1359	TM8	9	M717	9	Site	M1359I	Mice homologue M1356V: copper accumulation and liver disease in mice (toxic milk phenotype),⁵² no copper transport activity in a copper uptake assay⁵³
S1363	TM8	9	S721	9	Site	S1363F	Affects folding^9,12,17
M668	TM1	7	E99	7	Exit	-	-
M769	TM4	7	V193	7	Exit	C703Y	Partial transport activity (about 50%), no effect on expression⁴³
D765	TM4	8	E189	9	Exit	D765N/G	Partial transport activity (about 50%), decreased expression⁴³