Disease Markers / 2024 / Article / Tab 1 / Research Article
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 “?”.