Role of the Plasma Membrane Transporter of Organic Cations OCT1 and Its Genetic Variants in Modern Liver Pharmacology

Table 4

Genetic variants and functional consequences in human OCT1.

Reference SNP	Amino acid change	Nucleotide variation	Exon	Protein domain	Transport activity compared with wild type				PML
					MPP^+	TEA	Metformin	Others
rs34447885	S14F	c.41C>T	1	NH2 terminus	↑ [30]	= [3]	↓ [36]	= Sorafenib [3]
rs12208357	R61C	c.181C>T	1	Large EL	↓ [26, 30]	↓ [3, 26]	↓ [36]	↓ Sorafenib [3]	NO [36]
NA	R61S fs*10	c.181delCGinsT	1	Large EL		↓ [3]		↓ Sorafenib [3]
rs35546288	L85F	c.253C>G	1	Large El	= [30]				NO [3]
rs55918055	C88R	c.262T>C	1	Large EL	↓ [26]	↓ [3]		↓ Sorafenib [3]	NO [3]
NA	C88A fs*16	c.262delT	1	Large EL		↓ [3]		↓ Sorafenib [3]	NO [3]
NA	Q97K	c.289C>A	1	Large EL			↓ [35]		YES [35]
NA	P117L	c.350C>T	1	Large EL			↓ [35]		YES [35]
rs683369	L160F	c.480G>C	2	TMD2	= [26, 30, 33]	= [3, 33]	= [36]	= Sorafenib [3]	YES [33]
rs34104736	S189L	c.566C>T	3	TMD3	= [30]	↓ [3]	↓ [36]	↓ Sorafenib [3]	NO [3]
NA	P197S	c.589C>T	3	TMD3		= [3]		= Sorafenib [3]	YES [3]
NA	R206C	c.616C>T	3	EL2			↓ [35]		NO [35]
rs36103319	G220V	c.659G>T	3	TMD4	↓ [30]	↓ [3]	↓ [36]	= Sorafenib [3]
rs4646277	P283L	c.848C>T	5	TMD6	↓ [33, 41]	↓ [32, 33, 41]	= [41]	↓ Lamivudine [41]	YES [33]
rs4646278	R287G	c.859C>G	5	Large CL	↓ [33]	↓ [3, 32, 33]		↓ Sorafenib [3]	YES [33]
rs2282143	P341L	c.1022C>T	6	Large CL	↓ [30, 33, 41]	↓ [32, 33, 41]	= [36, 41]	↓ Lamivudine [41]	YES [33]
rs34205214	R342H	c.1025G>A	6	Large CL	= [30]		= [36]
rs34130495	G401S	c.1201G>A	7	CL4	↓ [26, 30]	↓ [26] = [3]	↓ [36]	= Sorafenib [3]
rs628031	M408V	c.1222A>G	7	TMD9	= [30]		= [36]
rs20222080	M420del	c.1258_1260delATG	7	TMD9	= [26, 30]		↓ [36]
rs35956182	M440I	c.1320G>A	7	TMD10	= [30]
rs34295611	V461I	c.1381G>A	7	CL5	= [30]
rs34059508	G465R	c.1393G>C	8	TMD11	↓ [30]	↓ [3]	↓ [36]	= Sorafenib [3]	YES [3]
rs35270274	R488M	c.1463G>C	8	EL6	= [30]		= [36]		YES [30]

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