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.