PMID: 18597651

Levesque E, Benoit-Biancamano MO, Delage R, Couture F, Guillemette C
Pharmacokinetics of mycophenolate mofetil and its glucuronide metabolites in healthy volunteers.
Pharmacogenomics. 2008 Jul;9(7):869-79., [PubMed]
Sentences
No. Mutations Sentence Comment
97 ABCC2 p.Trp208Arg
X
ABCC2 p.Trp208Arg 18597651:97:107
status: NEW
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 No significant effect was observed for UGT1 3´UTR variants or for the variants UGT1A1*28, 1A7 622T/C (Trp208Arg), all other variants of UGT1A8 and UGT1A9, or for seven additional ABCC2 SNPs. Login to comment 102 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 18597651:102:275
status: NEW
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ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 18597651:102:457
status: NEW
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ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 18597651:102:445
status: NEW
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ABCC2 p.Arg412Gly
X
ABCC2 p.Arg412Gly 18597651:102:230
status: NEW
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ABCC2 p.Lys430Arg
X
ABCC2 p.Lys430Arg 18597651:102:334
status: NEW
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 Nucleotide position Polymorphism Amino acid Reported impact Present study Ref. Observed frequency PK effect* Promoter -24C>T ↓ mRNA expression 0.24 25% ↑ AcMPAG [28] Exon 10 1219C>T Leu407Leu ‡ 0.01 - 1234A>G Arg412Gly ↓ Activity 0 - [33] 1249G>A Val417Ile ↓ or = expression 0.21 NS [29,30] 1289A>G Lys430Arg Unknown 0 - [32] 1446C>G Thr482Thr ↑ mRNA expression 0.01 - [32] Exons 25/32 3563T>A/ 4544G>A Val1188Glu/ Cys1515Tyr ↑ Expression 0.04 NS [31] Exon 28 3972C>T Ile1324Ile Altered mRNA stability 0.43 NS [34] *Multivariate analysis ‡In-vitro functional impact not evaluated The PK parameters of the ABCC2 codon 482 variant are presented in Figure 1C. Login to comment