Gene and Region | Amino Acid | rs Number | Functional Effect In Vitro | Allele Frequency in Different Ethnic Populations | References | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Change | Position | J | K | SSA | W | SA | I-P | PI | MA | AsA | AfA | ||||
% (n) | |||||||||||||||
SLC22A6 | L→P | 7 | N.A. | 0 (10) | 0 (9) | 5 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | ||||||
Exon 1 | R→H | 50 | Decreased Km and Vmax for transport of adefovir, cidofovir, and tenofovir | 0 (10) | 6 (9) | 0 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | ||||||
R→H | 50 | Decreased Km and Vmax for transport of adefovir, cidofovir, and tenofovir | 0 (48) | 1 (50) | 0 (60) | 3.2 (80) | Fujita et al., 2005 | ||||||||
P→L | 104 | rs11568627 | No significant change in uptake of PAH, OAT, or MTX | 0 (80) | 0 (50) | 0 (60) | 0.6 (80) | Fujita et al., 2005 | |||||||
Exon 4 | I→T | 226 | rs11568623 | No significant change in uptake of PAH, OAT, or MTX | 0.6 (80) | 0 (50) | 0 (60) | 0 (80) | Fujita et al., 2005 | ||||||
A→V | 256 | rs11568624 | No significant change in uptake of PAH, OAT, or MTX | 0.6 (80) | 0 (50) | 0 (60) | 0.6 (80) | Fujita et al., 2005 | |||||||
Exon 5 | R→W | 293 | rs45607933 | No significant change in uptake of PAH, OAT, or MTX | 0 (80) | 0 (50) | 0 (60) | 1.9 (80) | Fujita et al., 2005 | ||||||
Exon 8 | R→Q | 454 | rs11568634 | No significant change in uptake of PAH, OAT, or MTX | 0 (80) | 0 (50) | 0 (60) | 0.6 (80) | Fujita et al., 2005 | ||||||
Exon 10 | K→I | 525 | No change in Km for transport of adefovir | 0 (48) | 0 (48) | 2 (48) | Bleasby et al., 2005 | ||||||||
SLC22A7 | |||||||||||||||
Exon 1 | T→I | 110 | rs73625099 | N.A. | 0 (20) | 6 (18) | 0 (18) | 0 (20) | 0 (18) | 0 (14) | Xu et al., 2005 | ||||
Exon 3 | V→I | 192 | N.A. | 0 (20) | 0 (18) | 0 (18) | 0 (20) | 6 (18) | 0 (14) | Xu et al., 2005 | |||||
Exon 9 | G→D | 507 | N.A. | 5 (20) | 0 (18) | 0 (18) | 0 (20) | 0 (18) | 0 (14) | Xu et al., 2005 | |||||
SLC22A8 | |||||||||||||||
Exon 2 | F→L | 129 | rs11568479 | Function similar to the reference sequence | 0 (160) | 1 (100) | 0 (120) | 0 (160) | Erdman et al., 2006 | ||||||
Exon 3 | R→S | 149 | rs45566039 | Loss-of-function variants with respect to ES transport | 0.6 (160) | 0 (100) | 0.8 (120) | 0 (160) | Erdman et al., 2006 | ||||||
I→V | 175 | N.A. | 5 (20) | 0 (18) | 0 (18) | 0 (20) | 0 (18) | 0 (14) | Xu et al., 2005 | ||||||
Exon 4 | Q→Stop | 239 | rs11568496 | Loss-of-function variants with respect to ES transport | 0 (80) | 0 (50) | 0.8 (60) | 0 (80) | Urban et al., 2006 | ||||||
Exon 5 | I→R | 260 | rs11568493 | Loss-of-function variants with respect to ES transport | 0 (80) | 0 (50) | 0.8 (60) | 0 (80) | Erdman et al., 2006; Urban et al., 2006 | ||||||
R→W | 277 | rs11568492 | Reduced function to transport ES and Cimetidine | 0 (80) | 0 (50) | 0 (60) | 0.7 (80) | Urban et al., 2006 | |||||||
V→A | 281 | rs45438191 | Function similar to the reference sequence | 0 (160) | 0 (100) | 0 (120) | 6 (160) | Erdman et al., 2006 | |||||||
Exon 6 | I→F | 305 | rs11568482 | Reduced ability to transport ES; increased uptake of cimetidine | 0 (80) | 1.1 (50) | 3.5 (60) | 0 (80) | Urban et al., 2006 | ||||||
A→V | 310 | rs11568481 | Function similar to the reference sequence | 0.6 (160) | 0 (100) | 0 (120) | 0 (160) | Erdman et al., 2006 | |||||||
Exon 7 | A→V | 389 | Unlikely to be associated with differences in clearance of pravastatin | 0.8 (120) | Nishizato et al., 2003 | ||||||||||
A→S | 399 | rs11568497 | Function similar to the reference sequence | 0 (160) | 1 (100) | 0 (120) | 0 (160) | Erdman et al., 2006 | |||||||
Exon 9 | V→I | 448 | rs11568486 | Function similar to the reference sequence | 1.3 (160) | 1 (100) | 0 (120) | 0.6 (160) | Erdman et al., 2006 | ||||||
SLC22A11 | |||||||||||||||
Exon 1 | V→M | 13 | rs75976740 | N.A. | 0 (10) | 6 (9) | 0 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | |||||
R→Stop | 48 | rs35008345 | N.A. | 6 (9) | 0 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | |||||||
T→R | 62 | N.A. | 0 (10) | 6 (9) | 0 (7) | Xu et al., 2005 | |||||||||
Exon 2 | V→M | 155 | rs61744144 | N.A. | 11 (9) | 0 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | ||||||
Exon 4 | A→V | 244 | N.A. | - | 0 (10) | 0 (9) | 7 (7) | Xu et al., 2005 | |||||||
Exon 5 | E→K | 278 | rs147522958 | N.A. | 5 (10) | 0 (9) | 0 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | |||||
Exon 7 | T→I | 392 | N.A. | 0 (10) | 6 (9) | 0 (10) | 0 (9) | 0 (7) | Xu et al., 2005 | ||||||
SLC22A12 | |||||||||||||||
Exon 1 | G→W | 65 | rs12800450 | Urate transport activity is significantly decreased | 0.01 (5820) | Tin et al., 2011 | |||||||||
R→H | 90 | rs121907896 | Urate transport activity is significantly decreased | 20 (10) | Cheong et al., 2005; Komatsuda et al., 2006 | ||||||||||
R→H | 90 | rs121907896 | Urate transport activity is significantly decreased | 80 (5) | |||||||||||
R→C | 92 | rs144328876 | N.A. | 0.6 (652) | Graessler et al., 2006 | ||||||||||
Exon 2 | V→M | 138 | rs149722479 | Urate transport activity is significantly decreased | 3.1 (32) | Ichida et al., 2004; Komatsuda et al., 2006 | |||||||||
H→H | 142 | rs11231825 | Urate transport activity is significantly decreased | 55 (20) | 78 (18) | 34.9 (652) | 80 (20) | 44 (18) | 50 (14) | Xu et al., 2005; Graessler et al., 2006 | |||||
G→S | 164 | Urate transport activity is significantly decreased | 1.6 (32) | Ichida et al., 2004 | |||||||||||
Exon 3 | T→M | 217 | rs121907893 | Urate transport activity is significantly decreased | 1.6 (32) | Ichida et al., 2004 | |||||||||
W→Stop | 258 | rs121907892 | Urate transport activity is significantly decreased | 2.4 (1875) | 80 (5) | Iwai et al., 2004; Cheong et al., 2005 | |||||||||
Exon 5 | Q→Stop | 297 | N.A. | 1.6 (32) | Ichida et al., 2004 | ||||||||||
Exon 7 | Q→L | 382 | Urate transport activity is significantly decreased | 9.2 (38) | Wakida et al., 2005 | ||||||||||
L→R | 418 | rs121907895 | Urate transport activity is significantly decreased | 2.6 (38) | Wakida et al., 2005 |
J, Japanese; K, Korean; SSA, Sub-Saharan African; W, White; SA, Southeast Asian; I-P, Indo-Pakistani; PI, Pacific Islander; MA, Mexican American; AsA, Asian American; AfA, African American; N.A., not available.