ABCC2 p.Val471Ile
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PMID: 17412754
[PubMed]
Wang Z et al: "Signatures of recent positive selection at the ATP-binding cassette drug transporter superfamily gene loci."
No.
Sentence
Comment
196
The exonic SNP e10/G1249A, which involves a conservative amino acid change (V471I), was reported to result in decreased ABCC2 mRNA expression in preterm babies (56).
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ABCC2 p.Val471Ile 17412754:196:76
status: NEW195 The exonic SNP e10/G1249A, which involves a conservative amino acid change (V471I), was reported to result in decreased ABCC2 mRNA expression in preterm babies (56).
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ABCC2 p.Val471Ile 17412754:195:76
status: NEW
PMID: 16504381
[PubMed]
Kerb R et al: "Implications of genetic polymorphisms in drug transporters for pharmacotherapy."
No.
Sentence
Comment
209
Nonsynonymous SNPs that occur with a frequency of clearly more than 1% have only reported for ABCC2: Val471Ile (1249GOA; 14% in African American,13% in Asian,and 24% in Caucasian), Phe981Leu (2943COG; 4% in Caucasian), and Cys1515Tyr (4544GOA; 2% in Caucasian), as well as for ABCC3, His68Tyr (202COT; 2% in Caucasian) and Arg1297His (3890GOA, 5% in Caucasian).
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ABCC2 p.Val471Ile 16504381:209:101
status: NEW
PMID: 20367109
[PubMed]
Giraud C et al: "ABC transporters in human lymphocytes: expression, activity and role, modulating factors and consequences for antiretroviral therapies."
No.
Sentence
Comment
192
The most frequent, considered as 'common`, are the -24C > T polymorphism in the 5'-UTR region (allelic frequency: 18% of Caucasians), the non-synonymous 1249 G > A polymorphism (V471I, 21% of Caucasians) and the silent polymorphism 3972C > T (34% of Caucasians) [94].
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ABCC2 p.Val471Ile 20367109:192:178
status: NEW193 The V471I polymorphism did not modify the in vitro activity of the transporter [95].
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ABCC2 p.Val471Ile 20367109:193:4
status: NEW
PMID: 24465238
[PubMed]
Yi JH et al: "Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients."
No.
Sentence
Comment
95
The frequency of haplotype 3 was higher in ID ߜ1774 Gdel ߜ1549 G/A ߜ24C/T ߜ23G/A V471I T486I 2620+ 3A/G 2934 G/A 3972C/ T 4147&#ff0d; 35G/A 4508+ 12G/A Group Control CNS ADR -Yes CNS ADR -No 1 del G C G V C A G C G G 69 (31.3) 13 (15.8) 82 (32.3)** 2 G G C G V C A G C G G 54 (24.4) 24 (29.0) 65 (25.7) 3 G A T G V C A G T G G 31 (14.2) 18 (22.3)* 29 (11.4) 4 G G C G I C A G C G G 19 (8.7) 8 (9.3) 17 (6.7) 5 G G T G V C A G T G G 4 (1.7) 9 (10.6) 25 (9.8) ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; Total 220 82 254 Values are presented as number (%).
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ABCC2 p.Val471Ile 24465238:95:107
status: NEW