ABCC4 p.Gly538Asp
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PMID: 18364470
[PubMed]
Abla N et al: "The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene."
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Sentence
Comment
89
This mutant, G538D, has an aspartate instead of a glycine at the fourth position in the ABC signature of the first nucleotide binding domain (NBD; Fig. 1).
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ABCC4 p.Gly538Asp 18364470:89:13
status: NEW110 Initially, ABCC4 haplotypes were inferred from all variable sites with a frequency higher than TABLE 1 Primers used for constructing the variants and the nonfunctional mutant by site-directed mutagenesis Variant Sequencea (5Ј-3Ј) P78A F: GAATGACGCACAGAAGGCTTCTTTAACAAGAGC R: GCTCTTGTTAAAGAAGCCTTCTGTGCGTCATTC G187W F: GTAACATGGCCATGTGGAAGACAACCACAG R: CTGTGGTTGTCTTCCACATGGCCATGTTAC K293E F: GTACGCCTGGGAAGAGTCATTTTCAAATC R: GATTTGAAAATGACTCTTCCCAGGCGTAC K304N F: CCAATTTGAGAAATAAGGAGATTTCCAAG R: CTTGGAAATCTCCTTATTTCTCAAATTGG P403L F: GCGCAACCGTCAGCTGCTGTCAGATGGTAAAAAG R: CTTTTTACCATCTGACAGCAGCTGACGGTTGCGC G487E F: CCCTGGGTGTTCTCGGAAACTCTGAGGAG R: CTCCTCAGAGTTTCCGAGAACACCCAGGG K498E F: GTAATATTTTATTTGGGAAGGAATACGAAAAGG R: CCTTTTCGTATTCCTTCCCAAATAAAATATTAC M744V F: GGGCAAACAAACAAAGTGTGCTAAATGTCACTG R: CAGTGACATTTAGCACACTTTGTTTGTTTGCCC C956S F: CGTCTGGATGCCATCTCTGCCATGTTTGTCATC R: GATGACAAACATGGCAGAGATGGCATCCAGACG V1071I F: CACAAGAAAAGATTGGCATTGTGGGAAG R: CTTCCCACAATGCCAATCTTTTCTTGTG G538D F: GGAACCACGCTGAGTGGAGACCAGAAAGCACGGGTAAACC R: GGTTTACCCGTGCTTTCTGGTCTCCACTCAGCGTGGTTCC F, forward; R, reverse.
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ABCC4 p.Gly538Asp 18364470:110:1004
status: NEW140 This is illustrated by the fact that the accumulation of both substrates in the cells transfected with the G538D construct is not statistically different from the vector-transfected cells (Fig. 4A).
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ABCC4 p.Gly538Asp 18364470:140:107
status: NEW179 To check that the functional differences were not due to differences in localization of the variants at the cell membrane, immunocytochemistry studies were carried out with the less functional variants (G187W, G487E, and P78A), the nonfunctional mutant (G538D) and the more functional variant (C956S).
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ABCC4 p.Gly538Asp 18364470:179:254
status: NEW240 C, P78A; D, G187W; E, P403L; F, G487E; G, C956S; H, G538D.
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ABCC4 p.Gly538Asp 18364470:240:52
status: NEW