Table 1

Dominant cone-rod mutations in the GUCY2D gene

Families/probands Mutation Amino acid substitution
11-150 G2584CE837D
C2585AR838S
2–41-151 C2585TR838C
5–61-152 C2585TR838C
71-153 C2585TR838C
81-152 G2586AR838H
91-154 G2586AR838H
101-160 G2584CE837D
C2585TR838C
C2589TT839M
  • 1-150 Original CORD6 family.

  • 1-151 Kelsell et al.4

  • 1-152 This study.

  • 1-153 Van Ghelue et al.7

  • 1-154 Weigell-Weber et al.6

  • 1-160 Perrault et al.5