Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout

Table 1

Human kidney proximal tubule transporter and its allelic variants, which was previously published in our papers.

Gene	Kidney transporter	SNP ref.	Amino acid substitution	Membrane localization	Urate uptake	References
ABCG2	ABCG2	rs2231137	p.V12M	?	+	[17]
		rs2231142	p.Q141K	?	−	[17]
		rs372192400	p.R147W	−	?	[17]
		rs753759474	p.T153M	+	−	[17]
		None	p.I242T	+	−	[29]
		rs750972998	p.K360del	+	+	[17]
		rs752626614	p.F373C	+	−	[17]
		rs199854112	p.T421A	+	+	[17]
		rs769734146	p.T434M	+	−	[17]
		None	p.S476P	+	−	[17]
		rs200894058	p.S572R	−	?	[17]
		rs34783571	p.D620N	+	+	[17]
SLC22A12	URAT1	rs144328876	p.R92C	?	−	[18]
		None	p.R203C	?	−	[18]
		rs150255373	p.P325W	−	−	[30]
SLC17A1	NTP1	rs149708935	p.W75C	+	−	This paper
SLC22A13	OAT10	rs121908321	p.R16H	+	−
		rs113229654	p.R102H	+	+
SLC22A11	OAT4	rs201209258	p.V202M	+	+
		rs75933978	p.R343L	+	+
		rs144573306	p.P519L	+	−
SLC22A6	OAT1	rs146282438	p.A190T	+	+	[28]
		rs11568627	p.P104L	+	+	[28]
SLC22A8	OAT3	rs45566039	p.R149C	+	−	[28]
		rs11568486	p.V448F	+	+	[28]
		rs145474422	p.R513Q	+	+	[28]
SLC2A9	GLUT9	rs6820230	p. A17T	+	+	[31]
		rs2276961	p.G25R	+	+	[31]
		None	p.G72D	?	−	[18]
		None	p.I118HfsX27	?	−	[18]
		rs144196049	p.V169M	+	+	[31]
		None	p.G261R	?	−	[18]
		rs112404957	p.T275M	+	+	[31]
		rs73225891	p.D281H	+	+	[31]
		rs16890979	p.V282I	+	+	[31]
		rs3733591	p.R294H	+	+	[31]
		None	p.N333S	?	−	[18]
		rs2280205	p.P350L	+	+	[31]

Correct membrane localization is marked with the symbol “+”, impaired localization is marked with “-”, unexamined localization is marked with “?”. Transport capacity for urate without significant change is marked with “+”, changed capacity is marked with “−”. Unknown influence on localization or transport is marked with “?”.