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.