Skip to main content
. 2022 Sep 9;17(9):e0274335. doi: 10.1371/journal.pone.0274335

Fig 3. Chromatograms of novel disease-causing single nucleotide substitutions detected in PCG patients upon sequencing of CYP1B1 gene.

Fig 3

Right side of figure shows substituted nucleotides in chromatograms. A) A heterozygous variant c.457C>G detected in PCG049 leading to p.Arg153Gly. B) Second heterozygous variant c.516C>A detected in PCG049 resulting in p.Ser172Arg. C) Variant c.722T>A detected in homozygous condition in PCG052 leading to protein change p.Val241Glu. D) A heterozygous variant c.740T>A leading to p.Leu247Gln detected in PCG060. E) Sequence chromatogram of heterozygous variant c.1263T>A detected in PCG062 resulting in p.Phe421Leu. F) A homozygous variant c.724G>C leading to p.Asp242His detected in PCG067.