Figure 4. Pedigree drawing of family PKCC055 and alignment of L139 in GALK1 orthologs. A: Illustration of the chromosome 17q haplotypes and segregation of c.416T>C variation with the disease phenotype. B: Conservation of L139 in other GALK1 orthologs is illustrated with primates colored green; placental mammals blue; and vertebrates are purple. The arrow points to amino acid L139.