Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations
Huang et al. 10.1073/pnas.0711621105.
Supporting Information
Files in this Data Supplement:
SI Table 4SI Table 5
SI Table 6
SI Table 7
Table 4. POR variants identified in 842 SOPHIE samples
|
Genomic position |
NCBI (dbSNP) |
Location |
Nucleotide change |
Coding position |
Amin acid change |
Allele frequency |
|||
|
AA (n = 436) |
CA (n = 520) |
AS (n = 358) |
ME (n = 370) |
||||||
|
75382122 |
promoter |
G → A |
0.000 |
0.003 |
0.000 |
0.000 |
|||
|
75382145 |
promoter |
C → T |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75382148 |
rs1253728 |
promoter |
C → T |
0.062 |
0.108 |
0.038 |
0.028 |
||
|
75382148 |
promoter |
C → G |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75382158 |
promoter |
C → T |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75382173 |
promoter |
C → T |
0.000 |
0.003 |
0.000 |
0.000 |
|||
|
75382183 |
promoter |
C → A |
0.012 |
0.044 |
0.015 |
0.031 |
|||
|
75382204 |
promoter |
C → A |
0.026 |
0.130 |
0.078 |
0.077 |
|||
|
75382205 |
promoter |
G → T |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75382224 |
promoter |
G → C |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75382255 |
promoter |
C → T |
0.007 |
0.000 |
0.000 |
0.000 |
|||
|
75382335 |
promoter |
G → A |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75382391 |
5'-UTR |
A → C |
0.812 |
0.266 |
0.311 |
0.377 |
|||
|
75382405 |
5'-UTR |
G → T |
0.000 |
0.000 |
0.000 |
0.012 |
|||
|
75382454 |
Intron 1U |
C → T |
0.000 |
0.009 |
0.000 |
0.003 |
|||
|
75382474-8 |
Intron 1U |
delTCGGG |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75382507 |
Intron 1U |
T → C |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75382553 |
Intron 1U |
G → C |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75382585 |
Intron 1U |
C → G |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75421208 |
Intron 1U |
C → A |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75421261 |
rs10262966 |
Exon 1 |
A → G |
15 |
G5G |
0.282 |
0.014 |
0.006 |
0.008 |
|
75421333 |
rs41295381 |
Exon 1 |
G → A |
87 |
T29T |
0.028 |
0.002 |
0.003 |
0.000 |
|
75421404-6 |
Exon 1 |
delAAG |
158-160 |
delE53 |
0.000 |
0.000 |
0.000 |
0.003 |
|
|
75421410 |
Exon 1 |
C → T |
164 |
P55L |
0.000 |
0.000 |
0.003 |
0.000 |
|
|
75421525 |
Intron 1 |
C → A |
0.000 |
0.002 |
0.000 |
0.000 |
|||
|
75439602 |
Intron 1 |
G → A |
0.000 |
0.000 |
0.000 |
0.004 |
|||
|
75439633 |
Intron 1 |
C → T |
0.000 |
0.002 |
0.000 |
0.000 |
|||
|
75439772 |
Intron 2 |
delT |
0.000 |
0.000 |
0.004 |
0.000 |
|||
|
75439803 |
rs17148944 |
Intron 2 |
G → A |
0.058 |
0.076 |
0.045 |
0.028 |
||
|
75439938 |
Intron 2 |
A → C |
0.000 |
0.000 |
0.000 |
0.004 |
|||
|
75446846 |
Intron 3 |
C → T |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75446922 |
rs10239977 |
Intron 3 |
C → T |
0.135 |
0.363 |
0.138 |
0.129 |
||
|
75446931 |
rs41299475 |
Intron 3 |
G → T |
0.016 |
0.000 |
0.000 |
0.000 |
||
|
75446936 |
Intron 3 |
delG |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75446951 |
Intron 3 |
C→A |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75446955 |
Intron 3 |
G→A |
0.000 |
0.002 |
0.000 |
0.000 |
|||
|
75446969 |
rs41299478 |
Intron 3 |
C→T |
0.000 |
0.023 |
0.003 |
0.000 |
||
|
75446970 |
Intron 3 |
G→A |
0.000 |
0.002 |
0.006 |
0.003 |
|||
|
75447019 |
Intron 3 |
C→G |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75447042 |
rs41299481 |
Intron 3 |
G→C |
0.044 |
0.000 |
0.000 |
0.000 |
||
|
75447079 |
rs41299484 |
Intron 3 |
C→T |
0.028 |
0.000 |
0.000 |
0.000 |
||
|
75447080 |
Intron 3 |
G→A |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75447098 |
Intron 3 |
C→T |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75447541 |
Intron 3 |
C→T |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75447544 |
Intron 3 |
G→T |
0.002 |
0.000 |
0.000 |
0.000 |
|||
|
75447595 |
rs41299490 |
Exon 4 |
C→T |
369 |
A123A |
0.041 |
0.000 |
0.000 |
0.000 |
|
75447613 |
rs1135612 |
Exon 4 |
A→G |
387 |
P129P |
0.083 |
0.268 |
0.419 |
0.420 |
|
75447764 |
Intron 4 |
A→C |
0.000 |
0.002 |
0.000 |
0.000 |
|||
|
75447784 |
Intron 4 |
G→A |
0.000 |
0.000 |
0.000 |
0.003 |
|||
|
75447784 |
Intron 4 |
G→T |
0.000 |
0.000 |
0.003 |
0.000 |
|||
|
75447849 |
rs41299493 |
Intron 4 |
C→T |
0.000 |
0.002 |
0.003 |
0.000 |
||
|
75447909 |
Intron 4 |
C→T |
0.025 |
0.000 |
0.000 |
0.000 |
|||
|
75447942 |
Intron 4 |
C→G |
0.000 |
0.008 |
0.000 |
0.000 |
|||
|
75447943 |
Intron 4 |
G→A |
0.011 |
0.000 |
0.003 |
0.000 |
|||
|
75448288-9 |
Intron 4 |
delCT |
0.000 |
0.000 |
0.011 |
0.016 |
|||
|
75448298 |
rs41299496 |
Intron 4 |
G→A |
0.016 |
0.000 |
0.000 |
0.000 |
||
|
75448316 |
Exon 5 |
G→T |
531 |
G177G |
0.000 |
0.000 |
0.003 |
0.000 |
|
|
75448416 |
Exon 5 |
G→A |
631 |
D211N |
0.000 |
0.000 |
0.003 |
0.000 |
|
|
75448423 |
Exon 5 |
G→A |
638 |
G213E |
0.000 |
0.002 | |||