Fig. 4.

Schematic representation of variants reported in the literature for different phenotypes (brown: autosomal recessive hereditary sensory and motor neuropathy, Russe type [numbered according to NM_033500.2]; green: autosomal recessive non-spherocytic hemolytic anemia [numbered according to NM_033496.2]; blue: autosomal dominant retinitis pigmentosa 79 [numbered according to NM_000188.2]; and red: identified in our cohort [numbered according to NM_000188.2]). Hexokinase activities for red, brown, and blue colored variants were measured normal. § Carrier of p.(Arg94Gln)^+/− was also homozygous for glucose-6-phosphate dehydrogenase (G6PDH) variants. *c.−193A>G is reported to be seen in 2 siblings and only one of them exhibited severe hemolysis. † Individual carrying p.(Thr601Met) variant did not have hemolysis although hexokinase activity was diminished. ‡ Patient carrying p.(His868Tyr) had hemolysis but hexokinase activity was measured normal