POLYMORPHISMS OF DRUG TRANSPORTERS AND CLINICAL RELEVANCE - Drug Transporters: Molecular Characterization and Role in Drug Disposition - page 625

TABLE 21.1. Summary of Functional Consequences of Nonsynonymous
Polymorphisms in SLC and ABC Membrane Transporters
Transporter Variant Function Substrates Refs.

CNT1 V189I ↓ Gemcitabine 24

V385del, S546P ↓↓ Thymidine

CNT3 S5N ↔ Adenosine, cladribine,

fludarabine, inosine,
thymidine, cytidine, uridine

18,20

G367R ↓ Inosine, thymidine

ENT2 D5Y ↓ Gemcitabine, fludarabine,

S282del ↓↓ hypoxanthine, inosine,

uridine

45

↓

OAT1 R50H Adefovir, cidofovir, tenofovir 19

K525I ↔

R454Q ↓↓ p -Aminohippurate,

methotrexate, ochratoxin A

22

OAT3 R149S, Q239del,

I260R

↓↓ Estrone 3-sulfate, cimetidine 21,70

R277W, I305F ↓

OATP1B1 F73L, V82A,

I353T, G488A

↓↓ Estrone sulfate, estradiol 17 -

glucuronide, atorvastatin,
cerivastatin, pravastatin

55,75-78

N130D ↔

V174A ↔ , ↓ , ↓↓

N130D + V174A ↓

N432D ↔ , ↓

MPP + , TEA OCT1 S14F ↑ 51,73

R61C, P341L ↓

F160L ↔

G220V, P283L,
R287G, G401S,
G465R

↓↓

MPP + OCT2 F45lns, M165I,

R400C

↓ 74

OCTN1 D165G, M205I,

R282del

↓ Tetraethylammonium 46,70,172

↑

L503F

T306I ↔

G462E ↓↓

OCTN2 F17L ↓ Carnitine 70,173,174

E452K, S467C ↓↓

( Continued )