Table 2.
ATP-dependent urate transport activity and scores of protein prediction algorithms for each ABCG2 variant
| rs number | AA change | Transport function (%) | SIFT | PolyPhen-2 HumVar |
PolyPhen-2 HumDiv |
| rs2231137 | V12M* | 100.2 | 1 | 0.008 | 0.007 |
| rs72552713 | Q126X* | 3.6 | N/A | N/A | N/A |
| rs2231142 | Q141K* | 44.8 | 0.33 | 0.219 | 0.442 |
| rs746311704 | V178I* | 50.0 | 0.92 | 0.434 | 0.474 |
| rs34678167 | P269S* | 88.0 | 0.08 | 0.978 | 1 |
| S441N* | 0 | 0.55 | 0.119 | 0.091 | |
| rs752408502 | G462R* | 0 | 0.07 | 0.997 | 1 |
| rs868217328 | F506SfsX4* | 6.6 | N/A | N/A | N/A |
| V508I* | 41.8 | 1 | 0.002 | 0.003 | |
| rs548254708 | R575X* | 22.8 | N/A | N/A | N/A |
| A634V* | 33.3 | 0.74 | 0.094 | 0.058 | |
| rs1061018 | F208S | 0 | 0 | 1 | 1 |
| G268R | 0 | 0 | 1 | 1 | |
| N299S | 13.1 | 0.06 | 0.350 | 0.550 | |
| E311K | 65.4 | 0.84 | 0.012 | 0.013 | |
| rs3201997 | E334X | 0 | N/A | N/A | N/A |
| L447V | 23.3 | 0.45 | 0.777 | 0.933 | |
| rs780310265 | S486N | 5.5 | 0.32 | 0.827 | 0.963 |
| V516M | 0 | 0.02 | 0.614 | 0.881 | |
| C608X | 33.2 | N/A | N/A | N/A |
*These variants were detected through exonic sequencing analysis in this study. For rare variants, there were no homozygous participants.
AA, amino acid; ABCG2, ATP-binding cassette transporter subfamily G member 2; N/A, not applicable; PolyPhen-2, Polymorphism Phenotyping v2; SIFT, Sorting Intolerant from Tolerant.