Table VI.
Non-synonymous SNPs in OATs and URAT1 coding regions.
| Isoform | Amino acid change |
Functional effect | References |
|---|---|---|---|
| hOAT1 | L7P | n.d. | Xu et al. (2005) |
| R50H |
Km change in adefovir cidofovir and tenofovir |
Bleasby et al. (2005), Fujita et al. (2005), Xu et al. (2005) |
|
| P104L | No significant change in PAH, OTA or MTX uptake |
Fujita et al. (2005), Lee et al. (2003b) | |
| A190T | n.d. | Lee et al. (2003b) | |
| I226T | No significant change in PAH, OTA or MTX uptake |
Fujita et al. (2005) | |
| A256V | No significant change in PAH, OTA or MTX uptake |
Fujita et al. (2005) | |
| R293W | No significant change in PAH, OTA or MTX uptake |
Fujita et al. (2005) | |
| R454Q | No significant change in PAH, OTA or MTX uptake |
Fujita et al. (2005) | |
| Q454R | No significant change in PAH, OTA or MTX uptake |
Fujita et al. (2005) | |
| K525I | No Km change for PAH or adefovir |
Bleasby et al. (2005) | |
| hOAT2 | T110I | n.d. | Xu et al. (2005) |
| V192I | n.d. | Xu et al. (2005) | |
| G507D | n.d. | Xu et al. (2005) | |
| hOAT3 | F129L | No significant change in ES or cimetidine uptake |
Erdman et al. (2006) |
| R149S | Significantly reduced uptake of ES and cimetidine |
Erdman et al. (2006) | |
| I175V | n.d. | Xu et al. (2005) | |
| Q239X | Significantly reduced uptake of ES and cimetidine |
Erdman et al. (2006) | |
| I260R | Significantly reduced uptake of ES and cimetidine |
Erdman et al. (2006) | |
| R277W | No significant change in ES or cimetidine uptake |
Erdman et al. (2006) | |
| V281A | No significant change in ES or cimetidine uptake |
Erdman et al. (2006) | |
| I305F | Decreased ES uptake, increased cimetidine uptake |
Erdman et al. (2006) | |
| A310V | No significant change in ES or cimetidine uptake |
Erdman et al. (2006) | |
| A399S | No significant change in ES or cimetidine uptake |
Erdman et al. (2006) | |
| V448I | No significant change in ES or cimetidine uptake |
Erdman et al. (2006) | |
| hOAT4 | V13M | n.d. | Xu et al. (2005) |
| R48Stop | n.d. | Xu et al. (2005) | |
| T62R | n.d. | Xu et al. (2005) | |
| V155M | n.d. | Xu et al. (2005) | |
| A244V | n.d. | Xu et al. (2005) | |
| E278K | n.d. | Xu et al. (2005) | |
| V339M | n.d. | Xu et al. (2005) | |
| T392I | n.d. | Xu et al. (2005) | |
| URAT1 | R90H | Significantly reduced uptake of urate |
Cheong et al. (2005), Ichida et al. (2004), Iwai et al. (2004) |
| R92C | n.d. | Graessler et al. (2006) | |
| V138M | Significantly reduced uptake of urate |
Ichida et al. (2004) | |
| G164S | Significantly reduced uptake of urate |
Ichida et al. (2004) | |
| T217M | Significantly reduced uptake of urate |
Enomoto et al. (2002a) | |
| A226V | n.d. | Iwai et al. (2004) | |
| R228E | No significant change in urate uptake |
Iwai et al. (2004) | |
| W258Stop | Significantly reduced uptake of urate |
Cheong et al. (2005), Enomoto et al. (2002a), Ichida et al. (2004), Iwai et al. (2004), Komoda et al. (2004), Taniguchi et al. (2005), Wakida et al. (2005) |
|
| E298D | Significantly reduced uptake of urate |
Enomoto et al. (2002a) | |
| Q297Stop | n.d. | Takahashi 2005 | |
| Q312L | n.d. | Iwai et al. (2004) | |
| D313-P333 deletion | Significantly reduced uptake of urate |
Iwai et al. (2004) | |
| Q382L | Significantly reduced uptake of urate |
Ichida et al. (2004), Wakida et al. (2005) | |
| L418R | Significantly reduced uptake of urate |
Wakida et al. (2005) | |
| M430T | Significantly reduced uptake of urate |
Ichida et al. (2004) | |
| R477H | No significant change in urate uptake |
Iwai et al. (2004) | |
| V547fsX602 | Significantly reduced uptake of urate |
Ichida et al. (2004), Wakida et al. (2005) |
n.d., Not determined.