TABLE 8

Nonsynonymous genetic variants of human organic cation transporters with analyzed impact on function and/or expression

MAFs reported from different groups are presented in the order of their appearance in the literature. Superscript letters indicate the numbers of employed individuals in the studies: a, 200; b, 60; c, 20; d, 455; e, 570; f, 220; g, 116; h, 240; i, 3023; k, 125; l, 150; m, 96; n, 7968; o, 160; p, 120; q, 100; r, 623; s, 89; t, 136; u, 68. References in which the indicated MAFs are reported are printed in italics. SLC22A1: Ser14Phe: Shu et al., 2003; More et al., 2010; Seitz et al., 2015, Ser29Leu: Seitz et al., 2015, Phe41Leu: Itoda et al., 2004, Arg61Cys: Kerb et al., 2002; Shu et al., 2003; Chen et al., 2010b, 2017b; More et al., 2010; Saadatmand et al., 2012; Tzvetkov et al., 2012, 2013, 2018; dos Santos Pereira et al., 2014; Dujic et al., 2015; Seitz et al., 2015; Matthaei et al., 2016, 2019, Leu85Phe: Shu et al., 2003, Leu85Phe: Shu et al., 2003, Cys88Arg: Kerb et al., 2002; Saadatmand et al., 2012; Dujic et al., 2015; Seitz et al., 2015, Gln97Lys: Chen et al., 2010b, Pro117Leu: Itoda et al., 2004; Seitz et al., 2015, Phe160Leu: Kerb et al., 2002; Shu et al., 2003; Itoda et al., 2004; Sakata et al., 2004; Kang et al., 2007; Chen et al., 2010b, Ser189Leu: Shu et al., 2003; More et al., 2010; Seitz et al., 2015, Pro197Ser: Herraez et al., 2013; Seitz et al., 2015, Arg206Cys: Yoon et al., 2013; Seitz et al., 2015, Gly220Val: Shu et al., 2003; Chen et al., 2010b; More et al., 2010; Seitz et al., 2015, Thr245Met: Seitz et al., 2015, Pro283Leu: Sakata et al., 2004; Kang et al., 2007, Glu284Lys: Seitz et al., 2015, Arg287Gly: Sakata et al., 2004, Pro341Leu: Shu et al., 2003; Itoda et al., 2004; Kang et al., 2007; Chen et al., 2010b; More et al., 2010; Yoon et al., 2013, Arg342His: Shu et al., 2003; Gly401Ser: Kerb et al., 2002; Shu et al., 2003; Chen et al., 2010b, 2017b; More et al., 2010; Saadatmand et al., 2012; Tzvetkov et al., 2012, 2018; dos Santos Pereira et al., 2014; Dujic et al., 2015; Seitz et al., 2015; Matthaei et al., 2019, Met408Val: Kerb et al., 2002; Shu et al., 2003; Itoda et al., 2004; Kang et al., 2007; Chen et al., 2010b; More et al., 2010, Gly414Ala: Kerb et al., 2002, Met420del: Kerb et al., 2002; Shu et al., 2003, 2007; More et al., 2010; Saadatmand et al., 2012; Tzvetkov et al., 2012, 2013, 2018; dos Santos Pereira et al., 2014; Dujic et al., 2015; Seitz et al., 2015; Chen et al., 2017b; Liang et al., 2018; Matthaei et al., 2019, Met440Ile: Shu et al., 2003, Ile449Thr: Seitz et al., 2015, Val461Ile: Shu et al., 2003, Gly465Arg: Kerb et al., 2002; Shu et al., 2003; Chen et al., 2010b; More et al., 2010; Saadatmand et al., 2012; Dujic et al., 2015; Arg488Met: Shu et al., 2003. SLC22A2: Pro54Ser: Leabman et al., 2002, Pro160Ser: Leabman et al., 2002, Phe161Leu: Leabman et al., 2002, Met165Val: Leabman et al., 2002, Met165Ile: Leabman et al., 2002, Thr199Ile: Kang et al., 2007; Song et al., 2008a, Yoon et al., 2013, Thre201Met: Kang et al., 2007; Song et al., 2008a; Yoon et al., 2013, Ala270Ser: Leabman et al., 2002; Kang et al., 2007; Song et al., 2008a,b; Chen et al., 2009a, 2017b; Zolk et al., 2009a; Yoon et al., 2013; Teft et al., 2017, Ala297Gly: Leabman et al., 2002, Arg400Cys: Leabman et al., 2002, Lys432Gln: Leabman et al., 2002. SLC22A3: Thr44Met: Chen et al., 2010a, Ala116Ser: Chen et al., 2010a, Leu186Phe: Chen et al., 2010a, Met370Ile: Lazar et al., 2008, Val388Met: Chen et al., 2010a, Thr400Ile: Chen et al., 2010a; Yoon et al., 2013, Val423Phe: Chen et al., 2010a; Yoon et al., 2013, Ala439Val: Nies et al., 2011b, Gly475Ser: Nies et al., 2011b. SLC22A4: Val159Met: Urban et al., 2007, Asp165Gly: Urban et al., 2007, Met205Ile: Urban et al., 2007; Dujic et al., 2015, Arg282Stop: Urban et al., 2007, Ile306Thr: Urban et al., 2007; Toh et al., 2009; Yoon et al., 2013; Futatsugi et al., 2016, Gly462Glu: Kawasaki et al., 2004, Leu503Phe: Peltekova et al., 2004; Newman et al., 2005b; Taubert et al., 2005; Urban et al., 2007, 2008; Toh et al., 2009; Pochini et al., 2012; Yoon et al., 2013; Dujic et al., 2015; Futatsugi et al., 2016. SLC22A5: Phe17Leu: Urban et al., 2006, Trp132Stop: Koizumi et al., 1999; Tang et al., 1999, Leu144Phe: Urban et al., 2006, Met179Leu: Koizumi et al., 1999, Tyr211Cys: Vaz et al., 1999, Arg282Stop: Vaz et al., 1999; Wang et al., 1999, Trp283Cys: Koizumi et al., 1999, Met352Arg: Seth et al., 1999, Tyr401Stop: Wang et al., 1999, Tyr449Asp: Urban et al., 2006; Amat di San Filippo et al., 2008, Ser467Cys: Koizumi et al., 1999; Ohashi et al., 2002, Glu475Arg: Wang et al., 2000a, Pro478Leu: Seth et al., 1999; Tang et al., 1999; Urban et al., 2006, Val481Phe: Urban et al., 2006, Val481Ile: Urban et al., 2006, Phe508Leu: Urban et al., 2006, Met530Val: Urban et al., 2006, Pro549Ser: Urban et al., 2006. SLC47A1: Val10Leu: Kajiwara et al., 2009, Gly64Asp: Chen et al., 2009b; Kajiwara et al., 2009; Yoon et al., 2013, Leu125Phe: Chen et al., 2009b, Kim et al., 2013; Yoon et al., 2013, Thr159Met: Meyer zu Schwabedissen et al., 2010, Ala310Val: Kajiwara et al., 2009, Asp328Ala: Kajiwara et al., 2009; Meyer zu Schwabedissen et al., 2010, Val338Ile: Chen et al., 2009b; Meyer zu Schwabedissen et al., 2010, Asn474Ser: Kajiwara et al., 2009, Val480Met: Chen et al., 2009b, Cys497Ser: Chen et al., 2009b, Cys497Phe: Meyer zu Schwabedissen et al., 2010, Gln519His: Chen et al., 2009b. SLC47A2: Lys64Asn: Kajiwara et al., 2009; Yoon et al., 2013, Pro162Leu: Choi et al., 2011, Gly211Val: Kajiwara et al., 2009; Yoon et al., 2013, Gly393Arg: Choi et al., 2011, Thr505Ile: Choi et al., 2011, Ala525Thr: Choi et al., 2011.