Table 4: Genetic variants and functional consequences in human OCT1.

Reference SNPAmino acid changeNucleotide variationExonProtein domainTransport activity compared with wild type PML
MPP+TEAMetforminOthers

rs34447885S14Fc.41C>T1NH2 terminus↑ [30]= [3] [36]= Sorafenib [3]
rs12208357R61Cc.181C>T1Large EL [26, 30] [3, 26] [36] Sorafenib [3]NO [36]
NAR61S fs*10c.181delCGinsT1Large EL [3] Sorafenib [3]
rs35546288L85Fc.253C>G1Large El= [30]NO [3]
rs55918055C88Rc.262T>C1Large EL [26] [3] Sorafenib [3]NO [3]
NAC88A fs*16c.262delT1Large EL [3] Sorafenib [3]NO [3]
NAQ97Kc.289C>A1Large EL [35]YES [35]
NAP117Lc.350C>T1Large EL [35]YES [35]
rs683369L160Fc.480G>C2TMD2= [26, 30, 33]= [3, 33]= [36]= Sorafenib [3]YES [33]
rs34104736S189Lc.566C>T3TMD3= [30] [3] [36] Sorafenib [3]NO [3]
NAP197Sc.589C>T3TMD3= [3]= Sorafenib [3]YES [3]
NAR206Cc.616C>T3EL2 [35]NO [35]
rs36103319G220Vc.659G>T3TMD4 [30] [3] [36]= Sorafenib [3]
rs4646277P283Lc.848C>T5TMD6 [33, 41] [32, 33, 41]= [41] Lamivudine [41]YES [33]
rs4646278R287Gc.859C>G5Large CL [33] [3, 32, 33] Sorafenib [3]YES [33]
rs2282143P341Lc.1022C>T6Large CL [30, 33, 41] [32, 33, 41]= [36, 41] Lamivudine [41]YES [33]
rs34205214R342Hc.1025G>A6Large CL= [30]= [36]
rs34130495G401Sc.1201G>A7CL4 [26, 30] [26] = [3] [36]= Sorafenib [3]
rs628031M408Vc.1222A>G7TMD9= [30]= [36]
rs20222080M420delc.1258_1260delATG7TMD9= [26, 30] [36]
rs35956182M440Ic.1320G>A7TMD10= [30]
rs34295611V461Ic.1381G>A7CL5= [30]
rs34059508G465Rc.1393G>C8TMD11 [30] [3] [36]= Sorafenib [3]YES [3]
rs35270274R488Mc.1463G>C8EL6= [30]= [36]YES [30]

EL: extracellular loop; CL: cytoplasmic loop; NA: not assigned; PML: plasma membrane localization; TMD: transmembrane domain; ↑: increased; : decreased; =: unaltered.