Figure 3. Analysis of the c.C4127T:p.S1376F variant in the COL5A1 gene in family F10. A: Pedigree charts. The black symbol with an arrow indicates a KC proband, the white symbol indicates an unaffected parent, and the gray symbol indicates a subclinical KC parent. M, mutant allele; +, normal allele. B: Conservation of site S1376 for various species. C: Predicted three-dimensional structure of proteins. MU, mutant; WT, wild-type. (D) Refractive map and BAD map of the worse eye in F10 members.