TABLE 3

Nonsynonymous sequence variations in the SLCO1B1 gene

The variant allele frequencies are given for each major population as the range of values from the dbSNP database and the articles by Iida et al. (2001); Tirona et al. (2001); Michalski et al. (2002); Nozawa et al. (2002); Nishizato et al. (2003); Morimoto et al. (2004); Niemi et al. (2004); Chung et al. (2005); Lee et al. (2005); Thompson et al. (2005); Pasanen et al. (2006a,2008b); Jada et al. (2007); Ho et al. (2008); SEARCH Collaborative Group (2008); Mwinyi et al. (2008); Seithel et al. (2008); and Man et al. (2010). Functional data in vitro are from Tirona et al. (2001, 2003); Michalski et al. (2002); Nozawa et al. (2002, 2005); Iwai et al. (2004); Kameyama et al. (2005); Ho et al. (2006); Katz et al. (2006); Tsuda-Tsukimoto et al. (2006); and Seithel et al. (2008), and in vivo from Nishizato et al. (2003); Mwinyi et al. (2004); Niemi et al. (2004); Chung et al. (2005); Lee et al. (2005); Maeda et al. (2006a); and Kalliokoski et al. (2008b) (more references in Table 5).

Location (Exon)rs NumberNucleotide ChangeAmino Acid ChangeVariant Allele FrequencyFunction
EuropeansSub-Saharan Africans/African AmericansEast AsiansIn VitroIn Vivo
%
1rs11557087c.28A>Gp.T10AN.A.N.A.N.A.N.A.N.A.
2rs61760183c.170G>Ap.R57QN.A.N.A.N.A.N.A.N.A.
2rs56101265c.217T>Cp.F73L0–200N.A.
3rs56061388c.245T>Cp.V82A0–200N.A.
4rs2306283c.388A>Gp.N130D30–4572–8359–86↓↔
4rs2306282c.452A>Gp.N151S0–30–20–4N.A.N.A.
4N.A.c.455G>Ap.R152KN.A.N.A.N.A.N.A.N.A.
4rs11045819c.463C>Ap.P155T13–232–100–3
4rs72559745c.467A>Gp.E156G0–200N.A.
5rs4149056c.521T>Cp.V174A8–201–88–16
5rs72559746c.578T>Gp.L193R<0.3N.A.N.A.N.A.
5rs4603354c.608G>Ap.G203EN.A.N.A.N.A.N.A.N.A.
6N.A.c.633A>Gp.I211MN.A.N.A.0–0.5N.A.N.A.
6rs79135870c.664A>Gp.I222V010N.A.N.A.
6N.A.c.721G>Ap.D241NN.A.N.A.N.A.N.A.N.A.
7rs11045852c.733A>Gp.I245V00–70N.A.N.A.
7rs11045853c.758G>Ap.R253QN.A.N.A.N.A.N.A.N.A.
7rs72559742c.841C>Ap.Q281KN.A.N.A.N.A.N.A.N.A.
7N.A.c.875C>Tp.A292VN.A.N.A.0–0.5N.A.N.A.
8rs77871475c.1000A>Tp.T334S1N.A.N.A.N.A.N.A.
8rs72559747c.1007C>Gp.P336R0N.A.1N.A.
8rs61760245c.1012T>G/Ap.Y338D/NN.A.N.A.N.A.N.A.N.A.
8rs79109623c.1034C>Tp.T345M1N.A.N.A.N.A.N.A.
8rs55901008c.1058T>Cp.I353T0–200N.A.
9rs59113707c.1200C>Gp.F400L020N.A.N.A.
9rs77468276c.1246G>Cp.V416LN.A.N.A.N.A.N.A.N.A.
9rs61176925c.1272A>Cp.L424FN.A.N.A.N.A.N.A.N.A.
9rs56387224c.1294A>Gp.N432D0–100↔↓N.A.
10rs72559748c.1385A>Gp.D462G0–100N.A.
10N.A.c.1454G>Tp.C485F0N.A.1N.A.N.A.
10rs59502379c.1463G>Cp.G488A03–90N.A.
10rs74064213c.1495A>Gp.I499VN.A.6N.A.N.A.N.A.
11rs71581987c.1622A>Tp.Q541LN.A.N.A.N.A.N.A.N.A.
11rs71581988c.1628T>Gp.L543W0N.A.0–1N.A.N.A.
12rs74700754c.1724A>Tp.H575L100N.A.N.A.
12rs71581941c.1738C>Tp.R580StopN.A.N.A.N.A.N.A.N.A.
13N.A.c.1837T>Cp.C613RN.A.N.A.0–1N.A.N.A.
14N.A.c.1877T>Ap.L626StopN.A.N.A.0–1N.A.N.A.
14rs34671512c.1929A>Cp.L643F3–95–130–1
14rs56199088c.1964A>Gp.D655G0–200N.A.
14rs55737008c.2000A>Gp.E667G0–20–340N.A.
  • ↔, unchanged transporter function; ↓, reduced transporter activity; ↑, increased transporter activity; N.A., not available.