Figure 2. The novel variation identified in OPTC. A: The c.491G>T variant (indicated by an arrow) was sequenced in two directions and was compared to the wild type sequences. B: The missense variation p.Arg164Leu (c.491G>T; indicated by an arrow) changed a highly conserved residue from arginine to leucine. C: Variant c.491G>T (p.Arg164Leu) was not observed in the 96 normal controls by the heteroduplex-SSCP analysis.