Table 1. Isomerization activity of RPE65 mutants.

Mutant	Conserved family/conserved RPE65*	Activity,† %
Wild type		100
Iron-binding
H180A	Yes/yes	<2
H241A	Yes/yes	<2
H313A	Yes/yes	<2
H527A	Yes/yes	<2
E417A	Yes/yes	<2
Cysteines
C231S	No/no	55
C329S	No/yes	26
C330T	No/no	83
CC329/330SS	No/yes/no	<2
Pathogenic mutations
G40S	Yes/yes	<2
R44Q	Yes/yes	<2
H68Y or A	No/yes	<2
A132T	No/yes	50
H182Y or A	No/yes	10
Y368H	No/yes‡	<3
E417Q	Yes/yes	<2
G528V	Yes/yes	<2
K294T	Yes§/yes	16
C330Y	No/no	<2
A434V	No/no	55
Other criteria
Y368F	No/yes‡	56

^*Original wild-type residue.

^†Values are average of at least three determinations and are expressed as percentage of wild type.

^‡Conserved as aromatic: Y or F.

^§Conserved as basic: K or R.