Aldh2

Succinylcholine sensitivity Acetylation polymorphism

TPMT deficiency

Dihydropyrimidine (DPYD, DPD) polymorphism Glucuronosyltransferase polymorphism

Fish malodor syndrome

Multidrug resistance transporter (MDR1)

Multidrug resistance-related protein (MRP2)

2- to 13-fold multiplication of gene

Phase 1 enzyme

Phase 1 enzyme SNP truncates gene

Phase 1 enzyme Two major SNPs (Arg-144-Cys) (Ile-359-Leu) impair metabolic efficiency Promoter variants impair or enhance vitamin K reductase efficiency SNP (Glu-487-Lys)

Enzyme-drug receptor complex

Phase l enzyme

Phase 1 enzyme Phase 2 enzyme

Atypical SeChE (Asp-70-Gly) Multiple SNPs impair metabolic efficiency of NAT2

Phase 2 enzyme SNP (Pro-238-Ala)

Phase 1 enzyme Splice site mutation IVS14 + 1G > A

Phase 2 enzyme Mutated promoter (TA)7TAA polymorphism Phase 1 enzyme SNP (Pro-153-Leu) FMO3

Drug (efflux) transporter

Drug (efflux) transporter

MDRl (C3435T)

Absence of functional MRP2

Failure to respond to nortryptyline; toxicity to codeine Failure to respond to proton inhibitors and proguanil Toxicity to warfarin and phenytoin

Toxicity to, or lack of efficacy of, warfarin

Impaired metabolism of ethanol that protects against aversive effects of ethanol Prolonged apnea to succinylcholine INH-induced peripheral neuropathy; susceptibility to bladder cancer from aromatic amine carcinogens Drug-induced (6-MP, 6-TG, azathioprine) bone marrow toxicity Severe 5-fluorouracil toxicity

Severe irinotecan toxicity

Psychosocial disorders resulting from inability to metabolize trimethylamine in foods Enhances therapeutic effect of antiretroviral (efavirenz, nelfinavir) drugs in HIV-infected patients Dubin-Johnson syndrome

(continued )

Trait

Variant protein

Structural correlate

Functional correlate

Organic anion

Drug (uptake)

Functional loss

Altered uptake of many

transporter

transporter

associated with the

organic anionic drugs

(OATP-C)

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