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. Author manuscript; available in PMC: 2016 Jan 1.
Published in final edited form as: Pharmacogenomics. 2015;16(3):205–215. doi: 10.2217/pgs.14.169

Table 1.

Genetic variations in the POR gene found in the Czech Slavic population. Newly found variants are shown in red, previously described ones in yellow.

Exon g. c. p. SNP ID CZ (644) CZ AJ MJ Hart AA CA AS ME Gomes
5´-Flanking 4849 C>A rs72553972 113 0,175 - - - 0,026 0,130 0,078 0,077
5´-Flanking 4883 C>T rs139824475 3 0,005 - - - - - - -
5´-Flanking 4965 C>T 1 0,002 - - - - - - -
5´-Flanking 4994 G>T 1 0,002 - - - - - - -
Exon 1 5036 A>C −47 A>C rs3823884 159 0,247 0,224 0,221 - 0,812 0,266 0,311 0,377
Intron 1 5099 C>T −5 +21 C>T rs72553978 5 0,008 - - - 0,000 0,009 0,000 0,003
Exon 2 43951 C>T 60 C>T Ala20= 1 0,002 - - - - - - -
Exon 2 43976 A>T 85 A>T Thr29Ser 1 0,002 - - - - - - -
Exon 5 70258 A>G 387 A>G Pro129= rs1135612 183 0,284 0,318 0,360 0,212 0,083 0,268 0,419 0,420 0,260
Intron 5 70943 G>A 517 −4 G>A rs41299496 1 0,002 - - - - - - -
Exon 10 73673 C>T 984 C>T Ala328= rs72557941 7 0,011 - - - - - - - 0,007
Intron 10 74663 C>G 1067 −13C>G rs4732516 634 0,984 0,991 0,938 0,953 0,609 0,959 0,870 0,869
Exon 11 74721 G>A 1112 G>A Arg371His 1 0,002 - - - - - - -
Exon 11 74760 C>T 1151 C>T Pro384Leu 1 0,002 - - - - - - -
Exon 11 74800 G>A 1191 G>A Ser397= rs72557928 1 0,002 - - - 0,000 0,000 0,003 0,000
Exon 11 74809 G>A 1200 G>A Ser400= 1 0,002 0,000 0,004 - - - - -
Intron 11 74869 C>T 1248 +12C>T rs2286822 222 0,345 0,385 0,393 0,359 0,208 0,319 0,360 0,407 0,293
Intron 11 74877 G>A 1248 +20G>A rs2286823 221 0,343 0,382 0,393 0,374 0,194 0,317 0,360 0,407 0,297
Exon 13 75534 T>C 1455 T>C Ala485= rs2228104 632 0,981 0,991 0,952 0,923 0,675 0,967 0,881 0,868 0,990
Exon 13 75587 C>T 1508 C>T Ala503Val rs1057868 173 0,269 0,294 0,206 0,219 0,191 0,264 0,367 0,310 0,303
Exon 13 75665 C>T 1586 C>T Thr529Met 1 0,002 - - - - - - -
Exon 14 75868 G>A 1716 G>A Ser572= rs1057870 222 0,345 0,306 0,335 0,309 0,182 0,378 0,138 0,132 0,363
Exon 15 76133 G>A 1891 G>A Val631Ile rs145782750 1 0,002 0,000 0,004 - - - - - 0,007
Intron 15 76153 G>T 1898 +13 G>T rs72557956 1 0,002 - - - 0,000 0,008 0,003 0,003
Intron 15 76216 C>T 1899 −20 C>T 1 0,002 - - - - - - -

g. - Genomic position NG_008930.1

c. - Coding position NM_000941.2

p. - Amino acid change position NP_000932.3

The sign (+) represent nucleotides upstream the last base translated in the genomic sequence and the sign (−) represents nucleotides downstream the first base translated in the genomic sequence. MJ-Moroccan Jewish allele frequencies, AJ-Ashkenazi Jewish allele frequencies and AA-African American allele frequencies, CA-Caucasian American allele frequencies, AS-Chinese American allele frequencies, ME-Mexican American allele frequencies according to Huang et al. [12]. Frequency data were compiled from studies Hart et al. [34], Huang et al. [12], Gomes et al. [35], Saito et al. [36] and Tomkova et al. [37].