| Gene |
dbSNP |
Genetic Polymorphism |
Minor Allele Frequency (%) |
Position |
Functional Change |
Protein Expression |
Transporter Kinetic Characteristics |
| SLC22A6/OAT1/NKT |
|
-3655G>A [55] |
0.5 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs4149171 |
-560A>G [51,54] |
29.5 [51] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
-453G>A [51,54] |
27.2 [51] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
-418C>T [51] |
0.5 [51] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs4149170 |
-127G>A [52] |
26 [52] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs57677322 |
-302C>T [51] |
1.6 [51] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs4149171 |
-20A>G [52] |
27 [52] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs955434 |
G>A [56] |
N.D |
5’ SLC22A6 |
TOR CL no change [56] |
N.D. |
N.D. |
| |
20T>C [50] |
0.5 [50] |
Leu7Pro |
N.D. |
N.D. |
N.D. |
| rs11568626 |
149G>A [2,50,51,53] |
1.1 [2], 0.5 [50], 4.2 [51], 1.7 [53] |
Arg50His |
PAH [2,51] / OTA [2] / MTX [2] uptake no change |
N.D. |
Km and Vmax of PAH / OTA no change [2]
Km and Vmax of ADV / CDV / TNV ↓ [51] |
| rs11568630 |
180C>T [2] |
0.4 [2] |
Lys60Lys |
N.D. |
N.D. |
N.D. |
| rs11568630 |
180C>T [51] |
0.6 [51] |
Asn60Asn |
N.D. |
N.D. |
N.D. |
| rs11568625 |
186G>A [2] |
0.2 [2] |
Gly62Gly |
N.D. |
N.D. |
N.D. |
| rs11568628 |
252G>T [2] |
3.6 [2], 4 [50], 2.7 [51] |
Pro84Pro |
N.D. |
N.D. |
N.D. |
| rs11568627 |
311C>T [2] |
0.2 [2] |
Pro104Leu |
PAH / OTA / MTX uptake no change [2] |
N.D. |
N.D. |
| |
rs11568629 |
351A>G [2,50,51] |
3.6 [2], 4 [50], 3.2 [51] |
Pro117Pro |
N.D. |
N.D. |
N.D. |
| |
|
582C>G [51] |
0.7 [51] |
Leu194Leu |
N.D. |
N.D. |
N.D. |
| |
rs11568623 |
677T>C [2] |
0.2 [2] |
Ile226Thr |
PAH / OTA / MTX uptake no change [2] |
N.D. |
N.D. |
| |
rs11568624 |
767C>T [2] |
0.2 [2] |
Ala256Val |
PAH / OTA / MTX uptake no change [2] |
N.D. |
N.D. |
| |
|
837G>A [51] |
0.6 [51] |
Gly279Gly |
N.D. |
N.D. |
N.D. |
| |
rs138717295 |
873C>T [51] |
0.6 [51] |
Val291Val |
N.D. |
N.D. |
N.D. |
| |
rs45607933 |
877C>T [2] |
0.6 [2] |
Arg293Trp |
PAH / OTA / MTX uptake no change [2] |
N.D. |
Km and Vmax of PAH / OTA no change [2] |
| |
rs11568619 |
1233C>T [2,50] |
0.2 [2], 1 [50] |
Leu411Leu |
N.D. |
N.D. |
N.D. |
| |
rs11568634 |
1361G>A [2] |
0.2 [2] |
Arg454Gln |
PAH / OTA / MTX transport loss [2]
ADV CL no change [2] |
N.D. |
N.D. |
| |
|
1377A>G [52] |
1 [52] |
Gly459Gly |
N.D. |
N.D. |
N.D. |
| |
rs11568635 |
1470C>T [2,51] |
0.4 [2], 0.5 [51] |
Tyr490Tyr |
N.D. |
N.D. |
N.D. |
| |
|
1575A>T [51] |
0.5 [51] |
Lys525Ile |
PAH uptake no change [51] |
N.D. |
Km and Vmax of ADV / CDV / TNV no change [51] |
| |
|
55G>T [52] |
24 [52] |
Intron1 |
N.D. |
N.D. |
N.D. |
| |
rs10897312 |
136C>T [52] |
30 [52], 23 [53] |
Intron1 |
N.D. |
N.D. |
N.D. |
| |
|
150G>A [54] |
N.D. |
Intron3 |
N.D. |
N.D. |
N.D. |
| |
|
1515C>T [51] |
1.2 [51] |
Intron3 |
N.D. |
N.D. |
N.D. |
| |
|
211A>C [54] |
N.D. |
Intron4 |
N.D. |
N.D. |
N.D. |
| |
rs2276300 |
33C>T [51,52,54] |
5.6 [51], 16 [52] |
Intron5 |
N.D. |
N.D. |
N.D. |
| |
|
131C>T [51] |
1.1 [51] |
Intron5 |
N.D. |
N.D. |
N.D. |
| |
rs4149174 |
168C>T [52,54] |
45 [52] |
Intron6 |
N.D. |
N.D. |
N.D. |
| |
rs3017670 |
-44T>C [52] |
5 [52] |
Intron8 |
N.D. |
N.D. |
N.D. |
| |
|
2017G>A [51] |
8.3 [51] |
Intron8 |
N.D. |
N.D. |
N.D. |
| |
|
2029T>C [51] |
0.5 [51] |
Intron8 |
N.D. |
N.D. |
N.D. |
| |
|
2061C>T [51] |
12 [51] |
Intron8 |
N.D. |
N.D. |
N.D. |
| |
rs10897312 |
C>T [56] |
N.D. |
Intron |
TOR CL no change [56] |
N.D. |
N.D. |
| |
|
-8472T>C [51] |
0.5 [51] |
3’ UTR |
N.D. |
N.D. |
N.D. |
| |
rs736342 |
C>T [56] |
N.D. |
3’SLC22A6 |
TOR CL no change [56] |
N.D. |
N.D. |
| SLC22A7/OAT2/NLT |
rs73625099 |
329C>T [50] |
0.5 [50] |
Thr110Ile |
N.D. |
N.D. |
N.D. |
| |
571G>A [50] |
0.5 [50] |
Val192Ile |
N.D. |
N.D. |
N.D. |
| rs2270860 |
1269C>T [50,54] |
40 [50], 14 [52] |
Ser423Ser |
N.D. |
N.D. |
N.D. |
| rs70953693 |
1520G>A [50] |
0.5 [50] |
Gly507Asp |
N.D. |
N.D. |
N.D. |
| rs70953694 |
1539G>A [52] |
2.0 [52] |
Thr513Thr |
N.D. |
N.D. |
N.D. |
| |
269G>A [52] |
3.0 [52] |
intron 4 |
N.D. |
N.D. |
N.D. |
| |
842G>A [54] |
N.D. |
intron 4 |
N.D. |
N.D. |
N.D. |
| rs1574430 |
33C>A [52,54] |
22.0 [52] |
intron 5 |
N.D. |
N.D. |
N.D. |
| rs2841648 |
183A>C [52,54] |
22.0 [52] |
intron 5 |
N.D. |
N.D. |
N.D. |
| rs2841647 |
184A>C [52,54] |
22.0 [52] |
intron 5 |
N.D. |
N.D. |
N.D. |
| |
154T>C [52] |
1.0 [52] |
intron 7 |
N.D. |
N.D. |
N.D. |
| rs4149178 |
206A>G [52] |
2.0 [52] |
intron 9 |
N.D. |
N.D. |
N.D. |
| |
1792A>G [54] |
N.D. |
3’ UTR |
N.D. |
N.D. |
N.D. |
| |
1386G>A [54] |
N.D. |
3’ FR |
N.D. |
N.D. |
N.D. |
| SLC22A8/OAT3/ROCT |
|
-2521C>T [55] |
0.5 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
-2520A>G [55] |
0.5 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
-1901C>G [55] |
0.5 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs11231306 |
-1882G>C [55] |
46.9 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
-1851G>A [55] |
20.3 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs3840764 |
-659_-658G>ins [54,57] |
18.3 [57] |
5’ FR |
N.D. |
N.D. |
N.D. |
| rs10792369 |
T>C [56] |
29 [56] |
5’ UTR |
TOR CL no change [56] |
N.D. |
N.D. |
| rs948980 |
-578C>G [54,57] |
18.3 [57] |
5’ FR |
N.D. |
N.D. |
N.D. |
| rs948979 |
-515A>C [56,57] |
23 [56], 15.9 [57] |
5’ UTR |
TOR CL no change [56] |
Promoter activity and mRNA expression no change [57] |
N.D. |
| rs3809069 |
-461T>C [54,57] |
26.2 [57] |
5’ FR |
N.D. |
N.D. |
N.D. |
| ss94002361 |
-19C>A [57] |
1.6 [57] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
-16G>A [54] |
N.D. |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
30A>G [55] |
0.5 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| |
41C>A [55] |
0.5 [55] |
5’ UTR |
N.D. |
N.D. |
N.D. |
| rs4149180 |
153G>A [50,54,58] |
8 [50], 7.5 [58] |
Pro51Pro |
N.D. |
N.D. |
N.D. |
| rs11568479 |
387C>A [1] |
0.2 [1] |
Phe129Leu |
ES / CIM uptake no change [1] |
N.D. |
N.D. |
| rs45566039 |
445C>A [1] |
0.4 [14,15] |
Arg149Ser |
ES / CIM uptake lost [1] |
N.D. |
N.D. |
| rs201886442 |
523A>G [50] |
0.5 [50] |
Ile175Val |
N.D. |
N.D. |
N.D. |
| rs11568496 |
715C>T [1] |
0.2 [14,15] |
Gln239Ter |
ES / CIM uptake lost [1] |
N.D. |
N.D. |
| rs2276299 |
723T>A [50,54,56,58] |
24 [50], 13 [56], 27.5 [58] |
Thr241Thr |
TOR [56] / PRA [58] CL no change |
N.D. |
N.D. |
| rs11568493 |
779T>G [1] |
0.2 [14,15] |
Ile260Arg |
ES / CIM uptake lost [1] |
N.D. |
N.D. |
| rs11568492 |
829C>T [1] |
0.2 [14,15] |
Arg277Trp |
ES uptake ↓ / CIM uptake no change [1] |
N.D. |
N.D. |
| rs45438191 |
842T>C [1] |
1.7 [1] |
Val281Ala |
ES / CIM uptake no change [1] |
N.D. |
N.D. |
| rs11568482 |
913A>T [1] |
0.9 [1,59] |
Ile305Phe |
ES uptake ↓ / CIM uptake ↑ [1] |
N.D. |
Km and Vmax of ES and CIM no change [1] |
| rs11568481 |
929C>T [1] |
0.2 [1] |
Ala310Val |
ES / CIM uptake no change [1] |
N.D. |
N.D. |
| |
1166C>T [58] |
0.8 [58] |
Ala389Val |
PRA CL no change [58] |
N.D. |
N.D. |
| rs11568497 |
1195G>T [1] |
0.2 [1] |
Ala399Ser |
ES / CIM uptake no change [1] |
N.D. |
N.D. |
| rs11568486 |
1342G>A [1] |
0.7 [1] |
Val448Ile |
ES / CIM uptake no change [1] |
N.D. |
Km and Vmax, of ES and CIM no change [1] |
| |
177T>C [54] |
N.D. |
intron 2 |
N.D. |
N.D. |
N.D. |
| |
6201T>G [54] |
N.D. |
intron 2 |
N.D. |
N.D. |
N.D. |
| |
79G>C [54] |
31.7 [58] |
intron 3 |
N.D. |
N.D. |
N.D. |
| |
524T>C [54] |
N.D. |
intron 5 |
N.D. |
N.D. |
N.D. |
| |
386G>A [54] |
N.D. |
intron 7 |
N.D. |
N.D. |
N.D. |
| rs953894 |
754G>A [54,58] |
25 [56] |
intron 7 |
TOR CL no change [56] |
N.D. |
N.D. |
| |
211_212AA>del [54] |
N.D. |
intron 8 |
N.D. |
N.D. |
N.D. |
| |
81G>A [54,58] |
10.8 [58] |
intron 9 |
N.D. |
N.D. |
N.D. |
| rs2187383 |
G>T [56] |
36 [56] |
intron |
TOR CL no change [56] |
N.D. |
N.D. |
| rs4963326 |
C>T [56] |
31 [56] |
intron |
TOR CL no change [56] |
N.D. |
N.D. |
| SLC22A11/OAT4 |
rs11231809 |
A>T [56] |
43 [56] |
5’ SLC22A11 |
TOR CL ↓ [56] |
N.D. |
N.D. |
| rs4930423 |
A>C [56] |
44 [56] |
5’ SLC22A11 |
TOR CL ↑ [56] |
N.D. |
N.D. |
| rs3759053 |
-18C>T [56,57] |
45 [56], 3.2 [57] |
5’ PR |
TOR CL ↓ [56] |
Promoter activity and mRNA expression no change [57] |
N.D. |
| rs75976740 |
37G>A [50,62] |
0.5 [50] |
Val13Met |
ES uptake no change [62] |
N.D. |
N.D. |
| rs11231819 |
86T>C [61,62] |
N.D. |
Leu29Pro |
ES [61,62] /
OTA / UA [61] uptake loss |
Minimal to no protein [61]
≤ 10 of WT [62] |
N.D. |
| rs11231820 |
91A>G [61,62] |
N.D. |
Ile31Val |
ES [62] / OTA / UA [61] uptake no change |
N.D. |
N.D. |
| rs35008345 |
142C>T [50,61,62] |
0.5 [50], 0.78 [61] |
Arg48Ter |
ES [61,62] OTA / UA [61] uptake loss |
Minimal to no protein [61]
↓ [62] |
N.D. |
| rs200043601 |
185C>G [50,62] |
0.5 [50] |
Thr62Arg |
ES uptake no change [62] |
N.D. |
N.D. |
| rs2277313 |
312C>T [50] |
1 [50] |
Ser104Ser |
N.D. |
N.D. |
N.D. |
| PMT-2945 |
361C>T [61] |
0.58 [61] |
Arg121Cys |
ES / OTA / UA uptake no change [61] |
N.D. |
Km of ES no change Vmax, of ES ↓ [61] |
| rs200017515 |
400C>T [50] |
0.5 [50] |
Leu134Leu |
N.D. |
N.D. |
N.D. |
| rs61744144 |
463G>A [50,61,62] |
1 [50], 0.38 [61] |
Val155Met |
ES [61,62] / OTA / UA [61] uptake no change |
N.D. |
Km and Vmax, of ES no change [61] |
| rs12785832 |
464T>G [61,62] |
0.18 [61], 1 [62] |
Val155Gly |
ES uptake ↓ [62]
ES / OTA / UA uptake no change [61] |
↓ [62] |
Km of ES ↑
Vmax, of ES no change [62]
Km of ES no change
Vmax, of ES ↓ [61] |
| rs72559737 |
483C>A [50,60] |
3 [50] |
Gly161Gly |
N.D. |
N.D. |
N.D. |
| |
732C>T [50,62] |
0.5 [50] |
Ala244Val |
ES uptake no change [62] |
N.D. |
N.D. |
| rs147522958 |
832G>A [50,60] |
0.5 [50] |
Glu278Lys |
ES / DHEA / OTA uptake ↓ [60] |
N.D. |
Km of ES ↑
Vmax, of ES ↓ [60] |
| |
847C>T [60] |
1 [60] |
Leu283Leu |
N.D. |
N.D. |
N.D. |
| rs141760078 |
1015G>A [50,62] |
1 [50] |
Val339Met |
ES uptake no change [62] |
N.D. |
N.D. |
| PMT-2917 |
1028G>T [61] |
0.18 [61] |
Arg343Leu |
ES / OTA / UA uptake no change [61] |
N.D. |
N.D. |
| |
1175C>T [50,62] |
0.5 [50] |
Thr392Ile |
ES uptake ↓ [62] |
≤ 10 of WT [62] |
K of ES no change
Vmax, of ES ↓[62] |
| PMT-2910 |
1406A>G [61] |
0.2 [61] |
His469Arg |
ES / OTA / UA uptake loss [61] |
↓ [61] |
N.D. |
| PMT-2911 |
1471C>G [61] |
0.18 [61] |
Leu491Val |
ES / OTA / UA uptake no change [61] |
N.D. |
N.D. |
| rs3782099 |
C>T [56] |
47 [56] |
intron |
TOR CL ↓ [56] |
N.D. |
N.D. |
| rs1783811 |
G>A [56] |
31 [56] |
intron |
TOR CL ↓ [56] |
N.D. |
N.D. |
| rs2078267 |
T>C [56] |
48 [56] |
intron |
TOR CL ↓ [56] |
N.D. |
N.D. |
| rs528211 |
G>A [56] |
35 [56] |
3’ SLC22A11 |
TOR CL no change [56] |
N.D. |
N.D. |
| rs11231825 |
A>C [56] |
1 [56] |
3’ SLC22A11 |
TOR CL no change [56] |
N.D. |
N.D. |
| rs893006 |
T>G [56] |
35 [56] |
3’ SLC22A11 |
TOR CL no change [56] |
N.D. |
N.D. |
| rs476037 |
C>T [56] |
9 [56] |
3’ SLC22A11 |
TOR CL no change [56] |
N.D. |
N.D. |
Note: ins, insertion; del, deletion; FR, flanking region; PR, promoter region; UTR, untranslated region; ADV, adefovir; CDV, cidofovir; CIM, cimetidine; DHEA-s, dehydroepiandrosterone sulphate; ES, estrone sulphate; MTX, methotrexate; OTA, ochratoxin A; PAH, para-aminohippuric acid; PRA, pravastatin; TNV, tenofovir; TOR, torsemide; UA, uric acid; CL, clearance; ↑, increase; ↓, decrease; Km, Michaelis constant; Vmax, maximum transporter velocity; N.D., not determined. |
