Table 4: Novel mutation in CYP1B1 gene in PCG patients that we have reported

Mutation		Codon change		Amino acid change		Mutation type		GenBank acc. number		Likely effect
g. 38159965 T>G		CTG to CGG		p.Leu24Arg		Nonsynonymous		FJ815437		Pathogenic
g. 38155466 C>A		TTC to TTA		p.Phe190Leu		Nonsynonymous		FJ815438		Pathogenic
g. 38155050 G>A		GGC to GAC		p.Gly329Asp		Nonsynonymous		FJ815439		Pathogenic
g. 38302285 Gdel		insSTOP		p.Ile94X		Nonsense		GQ925803		Pathogenic
g. 38301697 C>G		CAC to GAC		His279Asp		Nonsynonymous		GQ925804		Pathogenic
g. 38301512 G>T		CAG to CAT		p.Gln340His		Nonsynonymous		GQ925805		Probably pathogenic
g. 38298198 G>A		AAG to AAA		p.Lys433Lys		Synonymous		GQ925806		Nonpathogenic