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Figure 7 | Orphanet Journal of Rare Diseases

Figure 7

From: Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

Figure 7

Novel OCA2 mutations and resulting OCA2 phenotypes. A. Electropherograms of amplimers from genomic DNA templates illustrating homozygosity for the substitution mutations found in the affected individuals of the families. Arrows indicate the site of the mutations. All mutations described here are numbered from the ATG start codon (GenBank NM_000275). B. Clustal W alignment of OCA2 proteins from various species shows conservation of the residues at positions 318, 486 and 527 among twelve species. The conserved amino acids are shown with a dark gray background, and the nonconserved amino acids are shown with a white background. C. Photographs of fourteen OCA2 probands. The family number and the mutation identified in the OCA2 gene are given for each proband; a number of the probands shown have used hair dyes.

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