Fig. 2

The rare NT5C3A gene mutation (rs1227859962) is associated with pyrimidine 5′-nucleotidase deficiency. Fragment of sequencing traces of the NT5C3A gene in an affected patient (RK) and asymptomatic family member (EK). The gDNA sequence analysis (A) revealed a heterozygous deletion (NC_000007.14:g.33017549_33017551del) only in both affected patients in contrast to cDNA sequence analysis (B), which revealed only a single mutant allele with a deletion (NM_001166118.3: c.444_446delGTT) causing the single amino acid deletion (NP_001361265.1:p.Phe149del) in cytosolic pyrimidine 5′-nucleotidase