Figure 1. Schematic diagram of the TGFBI protein and the five most common pathogenic variants in the TGFBI gene. The TGFBI gene encodes the 64 kDa TGFBI protein composed of four fasciclin 1 (FAS1) domains, an N-terminal cysteine-rich (EMI) domain,
and an RGD (Arg-Gly-Asp) motif. The most common pathogenic variants are in the two major codons (Arg124 or Arg555) in the
FAS1 domains of TGFBI. C, C-terminus; GCD1, granular corneal dystrophy, type 1; GCD2, granular corneal dystrophy, type 2;
LCD1, lattice corneal dystrophy, type 1; N, N-terminus; RBCD, Reis-Buckler corneal dystrophy; TBCD, Thiel-Behnke corneal dystrophy.