Table 3

Human CRYG mutations in autosomal dominant congenital cataract

Genent of mutation*Amino acid†Cataract phenotypeReference
*A of ATG start codon is counted as nt 1.
†Met encoded by the start codon is counted as amino acid 1 in γC-crystallin; while this amino acid is missing in γD-crystallin,24 the counting starts for this protein at Gly as 1.
CRYGC A13CT5PCoppock-like 22
123-128insGCGGC52 new aaZonular pulverulent 25
C502TR168WC135-lamellarThis study
CRYGD C43TR14CPunctate progressive 23
C70AP23TC87-lamellarThis study
C109AR36CPrismatic crystals 24
G176AR58HAculeiform 22
G470AW156XRCS91-central nuclearThis study