Figure 1A: The last five exons of CTNS gene showing G>A substitution in codon 245 (exon 10), at base position 734 of CTNS gene coding region (c.734 G>A), causing substitution of (TGG) for tryptophan to (TAG) a stop codon, at position 245 of cystinosin protein (p.W245X), leading to loss of 122 amino acid residues.