Figure 1. Analysis of the c.715G>C (p.G239R) sequence variant in VSX1 exon 4. A: DNA sequence electropherogram of the c.715G>C (p.G239R) sequence variant in VSX1 exon 4 (NM_014588). B: multiple sequence alignment of the amino acid sequences of VSX1 in different species. Alignments were performed using the program Clustal (provided in the public domain by European Bioinformatics Institute, European Molecular Biology Laboratory, Heidelberg, Germany). C: segregation of p.G239R in family K264. Each individual was reported by age (in years), genotype and videokeratographs. Filled symbols refer to keratoconus individual, whereas open symbols are individuals without clinical keratoconus.