ABCMdb

PMID: 20367109

Giraud C, Manceau S, Treluyer JM
ABC transporters in human lymphocytes: expression, activity and role, modulating factors and consequences for antiretroviral therapies.
Expert Opin Drug Metab Toxicol. 2010 May;6(5):571-89., [PubMed]

Sentences

No. Mutations Sentence Comment

158 ABCC1 p.Ala893Ser ABCC1 p.Ala893Thr Two polymorphisms have been abundantly studied: one polymorphism at the 2677 position of exon 21 that may result in two distinct amino-acid changes, Ala893Ser (G2677T) and Ala893Thr (G2677A), and one synonymous polymorphism in exon 26 (C3435T). Login to comment 179 ABCC1 p.Gly671Val ABCC1 p.Arg433Ser 3.1.2.1 ABCC1/MRP1 In 2001, Conrad et al. described two non-synonymous polymorphisms, R433S and G671V. Login to comment 183 ABCC1 p.Ala989Thr Letourneau et al. showed that none of ten non-synonymous polymorphisms influenced significantly ABCC1 protein levels and that only one polymorphism, the A989T (2965 G > A) variant, affected ABCC1 activity [90]. Login to comment 192 ABCC2 p.Val471Ile 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]. Login to comment 193 ABCC2 p.Val471Ile The V471I polymorphism did not modify the in vitro activity of the transporter [95]. Login to comment 196 ABCC2 p.Ser789Phe A rare non-synonymous polymorphism, the 2366C > T (S789F) variant, was associated in vitro with a decrease of the transporter expression and a slight increase of its activity [95]. Login to comment 197 ABCC2 p.Ser789Phe ABCC2 p.Ala1450Thr Other rare non-synonymous variants (frequencies about 1%) have also been identified, such as the 2302C > T (A768W), 2366C > T (S789F) and 4348 G > A (A1450T) polymorphisms, but are rare and their functional impact is unknown. Login to comment 199 ABCC3 p.His68Tyr ABCC3 p.Arg1297His 3.1.2.3 ABCC3 - 5/MRP3 - 5 Only two ABCC3 non-synonymous polymorphisms (H68Y and R1297H) have a frequency higher than 1%. Login to comment 204 ABCG2 p.Gln141Lys Two common non-synonymous substitutions have been particularly investigated in various tissues, the 34 G > A (V12 M, 4% of Caucasians) and 421C > A (Q141K, 11% of Caucasians) polymorphisms. Login to comment 207 ABCG2 p.Gln126* A nonsense mutation resulting in a premature stop codon has also been identified, the 376C > T mutation (Q126stop), which was associated with a lack of protein activity. Login to comment 544 ABCC1 p.Gly671Val Conrad S, Kauffmann HM, Ito K, et al. Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution. Login to comment 578 ABCG2 p.Gln141Lys Imai Y, Nakane M, Kage K, et al. C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance. Login to comment