Table 2. CYP1B1 mutations identified in Spanish PCG patients.

Nucleotide changea	Amino acid change	Allelic frequencyb (%)	Exon	Background haplotypec	Reference
c.526C>T	P52L	3.8	2	RAVN	[26]
c.553G>A	G61E	7.7	2	RAVN	[4]d
c.612T>A	Y81N	3.8	2	GSLN	[25]e
c.688C>A	A106D	3.8	2	RAVN	This work
c.888G>T	E173X	3.8	2	ND	This work
c.906delG	A179fsX18	3.8	2	RALS	This work
c.1154C>A	F261L	3.8	2	RALS	This work
c.1155G>T	E262X	3.8	2	RAVN	This work
c.1394G>A	W341X	3.8	2	RAVN	This work
c.1435_1447delGAGTGCAGGCAGA	R355fsX69	11.5	3	RAVN	[17]f
c.1539C>A	R390S	3.1	3	RAVN	[60]g
c.1569C>T	P400S	3.1	3	ND	[18]h
c.1571_1580dupTCATGCCACC	T404fsX30	23	3	RAVN	[61]i
c.1681C>T	P437L	3.8	3	RAVN	[13]j
c.1776C>T	R469W	7.7	3	RAVN	[12]k
c.1907_1912del ACCCAA	P513_K514del	7.7	3	RALN	This work

^aMutations were named based on cDNA reference sequence U03688 [39]. The first nucleotide of the transcription initiation site is denoted as nucleotide +1 according to Tang and coworkers [40]. ^bThe data from this column are the allelic frequency among PCG probands with CYP1B1 mutations. ^cThe haplotypes are for the four common coding SNPs (R48G, A119S, V432L and N453S). These mutations have been described as follows: ^d3987G>A; ^e4046T>A; ^f1410–1422delGAGTGCAGGCAGA; ^g1514C>A; ^hc.1198C>T; ⁱ1546–1555dupTCATGCCACC; and ^j1656C>T; ^k1751C>T.