Table 2.
Genetic variations in the POR gene identified in the cohort.
| Location | Genomic position NG_008930.1 | Coding position NM_000941.2 | Amino acid change NP_000932.3 | SNP ID | Allele frequencies | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Present study | Hart et al. [12] | Huang et al. [13] | Gomes et al. [23] | Saito et al. [14] | |||||||||
| MJ | AJ | AA | CA | AS | ME | ||||||||
| Exon 1U | 5003A>C | −80A>C | 0.000 | 0.003 | – | – | – | – | – | – | – | ||
| Exon 1U | 5036A>C | −47A>C | rs3823884 | 0.221 | 0.224 | – | 0.812 | 0.266 | 0.311 | 0.377 | – | 0.255 | |
| Exon 1U | 5050G>T | −33G>T** | rs72553977 | 0.018 | 0.000 | – | 0.000 | 0.000 | 0.000 | 0.012 | – | – | |
| Exon 1U | 5078G>A | −5G>A | 0.000 | 0.006 | – | – | – | – | – | – | – | ||
| Exon 1 | 43906A>G | 15A>G* | Gly5=† | rs10262966 | 0.037 | 0.012 | 0.045 | 0.282 | 0.014 | 0.006 | 0.008 | 0.007 | 0.011 |
| Exon 1 | 43978G>A | 87G>A | Thr29=† | rs41295381 | 0.011 | 0.003 | 0.010 | 0.028 | 0.002 | 0.003 | 0.000 | – | – |
| Intron 1 | 62302T>C | 189-10T>C | 0.004 | 0.003 | – | – | – | – | – | – | – | ||
| Exon 3 | 69416T>C | 304T>C | Ser102Pro‡ | 0.000 | 0.003 | – | – | – | – | – | – | – | |
| Exon 3 | 69456C>T | 344C>T | Ala115Val§ | 0.004 | 0.000 | – | – | – | – | – | 0.000 | – | |
| Exon 4 | 70258A>G | 387A>G | Pro129=† | rs1135612 | 0.360 | 0.318 | 0.212 | 0.083 | 0.268 | 0.419 | 0.420 | 0.260 | 0.440 |
| Exon 4 | 70300C>T | 429C>T* | Tyr143=§ | 0.015 | 0.000 | – | – | – | – | – | – | – | |
| Exon 4 | 70361G>A | 490G>A | Val164Met§ | 0.004 | 0.000 | – | – | – | – | – | – | – | |
| Exon 5 | 71001G>A | 571G>A | Val191Met‡ | 0.000 | 0.003 | – | – | – | – | – | – | – | |
| Intron 5 | 71411C>G | 642-5C>G | 0.007 | 0.009 | – | 0.005 | 0.004 | 0.000 | 0.000 | – | – | ||
| Exon 6 | 71457C>T | 683C>T | Pro228Leu‡ | rs17853284 | 0.000 | 0.003 | – | 0.000 | 0.006 | 0.000 | 0.000 | 0.003 | 0.002 |
| Exon 6 | 71461C>T | 687C>T | Ala229=‡ | rs72557906 | 0.000 | 0.003 | – | 0.002 | 0.000 | 0.003 | 0.000 | – | – |
| Exon 7 | 72135C>T | 744C>T | Tyr248=§ | 0.004 | 0.000 | – | – | – | – | – | – | – | |
| Exon 8 | 73486G>A | 898G>A | Glu300Lys‡ | rs11540674 | 0.000 | 0.006 | – | – | – | – | – | 0.000 | – |
| Exon 9 | 73718C>T | 1029C>T | Ala343=§ | rs72557942 | 0.004 | 0.000 | – | 0.000 | 0.000 | 0.003 | 0.000 | – | – |
| Exon 9 | 73719G>A | 1030G>A | Asp344Asn§ | 0.004 | 0.000 | – | – | – | – | – | – | – | |
| Intron 9 | 74663C>G | 1067-13C>G | rs4732516 | 0.938 | 0.991 | 0.953 | 0.609 | 0.959 | 0.870 | 0.869 | – | 0.132 | |
| Exon 10 | 74802A>C | 1193A>C | Glu398Ala§ | 0.004 | 0.000 | – | – | – | – | – | – | – | |
| Exon 10 | 74809G>A | 1200G>A | Ser400=§ | 0.004 | 0.000 | – | – | – | – | – | – | – | |
| Intron 10 | 74869C>T | 1248+12C>T | rs2286822 | 0.393 | 0.385 | 0.359 | 0.208 | 0.319 | 0.360 | 0.407 | 0.293 | 0.389 | |
| Intron 10 | 74877G>A | 1248+20G>A | rs2286823 | 0.393 | 0.382 | 0.374 | 0.194 | 0.317 | 0.360 | 0.407 | 0.297 | 0.389 | |
| Exon 12 | 75534T>C | 1455T>C** | Ala485=† | rs2228104 | 0.952 | 0.991 | 0.923 | 0.675 | 0.967 | 0.881 | 0.868 | 0.990 | 0.134 |
| Exon 12 | 75587C>T | 1508C>T** | Ala503Val† | rs1057868 | 0.206 | 0.294 | 0.219 | 0.191 | 0.264 | 0.367 | 0.310 | 0.303 | 0.434 |
| Exon 13 | 75868G>A | 1716G>A | Ser572=† | rs1057870 | 0.335 | 0.306 | 0.309 | 0.182 | 0.378 | 0.138 | 0.132 | 0.363 | 0.028 |
| Exon 14 | 76133G>A | 1891G>A | Val631Ile§ | rs145782750 | 0.004 | 0.000 | – | – | – | – | – | 0.007 | – |
| Exon 15 | 76279G>A | 1942G>A | Asp648Asn‡ | 0.000 | 0.003 | – | – | – | – | – | – | – | |
Genomic positions refer to the POR sequence NG_008930.1 and coding positions refer to the cDNA NM_000941.2. The sign (+) represents nucleotides downstream from the last base translated in the genomic sequence and the sign (-) represents nucleotides upstream from the first base translated in the genomic sequence. The amino acid positions refer to the GenBank accession number NP_000932.3. Bold text indicates a new nonsynonymous amino acid change found in this study Frequency data were compiled from studies Hart et al. [12], Huang et al. [13], Gomes et al. [23] and Saito et al. [14].
p < 0.05
p < 0.02 in Pearson's correlation between allele frequencies of AJ and MJ groups.
Variant found in both groups.
Variant found in AJ.
Variant found in MJ.
=: Silent mutation; AA: African–American; AJ: Ashkenazi Jewish; AS: Chinese–American; CA: Caucasian–American; ME: Mexican–American; MJ: Moroccan–Jewish.