ABCC2 p.His1414Tyr
| Predicted by SNAP2: | A: D (66%), C: D (66%), D: D (75%), E: D (75%), F: D (75%), G: D (71%), I: D (75%), K: D (75%), L: D (71%), M: D (71%), N: N (53%), P: D (85%), Q: D (53%), R: D (66%), S: D (66%), T: D (71%), V: D (71%), W: D (80%), Y: D (66%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Genetic variations of the ABCC2 gene in the Chines... Drug Metab Pharmacokinet. 2008;23(5):385-91. Ho WF, Koo SH, Yee JY, Lee JD
Genetic variations of the ABCC2 gene in the Chinese, Malay, and Indian populations of Singapore.
Drug Metab Pharmacokinet. 2008;23(5):385-91., [PMID:18974617]
Abstract [show]
MRP2 is a drug transporter that is responsible for the gastrointestinal absorption and biliary excretion of a wide variety of endogenous and xenobiotic compounds, including many clinically used drugs. This study aims to identify genetic variations of ABCC2 gene in three distinct ethnic groups of the Singaporean population (n = 288). The coding region of the gene encoding the transporter protein was screened for genetic variations in the study population by denaturing high-performance liquid chromatography and DNA sequencing. Twenty-two genetic variations of ABCC2, including 8 novel ones, were found: 1 in the 5' untranslated region, 10 in the coding exons (8 nonsynonymous and 2 synonymous variations), and 11 in the introns. Three novel nonsynonymous variations: 2686G > A (Glu896Lys), 4240C > T (His1414Tyr) and 4568A > C (Gln1523Pro) were detected in single heterozygous Malay, Chinese, and Indian subjects, respectively. Among the novel nonsynonymous variations, 4240C > T and 4568A > C were predicted to be functionally significant. These data would provide fundamental and useful information for pharmacogenetic studies on drugs that are substrates of MRP2 in Asians.
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No. Sentence Comment
13 Three novel nonsynonymous variations: 2686GÀA (Glu896Lys), 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were detected in single heterozygous Malay, Chinese, and Indian subjects, respectively.
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ABCC2 p.His1414Tyr 18974617:13:78
status: NEW44 Of the 8 nonsynonymous variations, 3 variations were novel: 2686GÀA (Glu896Lys), 4240CÀT (His1414Tyr), and 4568AÀC (Gln1523Pro), each was found as heterozygotes in Malay, Chinese, and Indian subjects, respectively.
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ABCC2 p.His1414Tyr 18974617:44:100
status: NEW46 MRP2 comprises 17 transmembrane segments organized in three membrane-spanning domains (MSD).2) Among the novel nonsynonymous variations, 4240CÀT (His1414Tyr) is located between Walker A and Walker C motifs of the ABC, and 4568AÀC (Gln1523Pro) is located just adjacent to the ABC.5) Mutations that are likely to affect function or alter phenotype have been found to localize within the ABC or its adjacent regions.5) This is consistent with the results obtained using the PolyPhen program (http://genetics.bwh.harvard.edu/pph/) to predict the functional effects of the amino acid substitutions.
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ABCC2 p.His1414Tyr 18974617:46:151
status: NEW47 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were expected to be probably damaging based on the position-specific independent count score differences derived from multiple alignments.
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ABCC2 p.His1414Tyr 18974617:47:14
status: NEW49 This is also well in agreement with the fact that His1414Tyr and Gln1523Pro involve a larger degree of structural modification than Glu896Lys.
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ABCC2 p.His1414Tyr 18974617:49:50
status: NEW50 The polar histidine of His1414Tyr is replaced by the non-polar tyrosine.
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ABCC2 p.His1414Tyr 18974617:50:23
status: NEW67 Population Genetic Variations of ABCC2 Gene SNP20 (389) el nonsynonymous variations, 2686GÀA (Glu896Lys) was speculated to be benign, and 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were speculated to be potentially damaging in function.
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ABCC2 p.His1414Tyr 18974617:67:157
status: NEW