ABCC4 p.Val159Met
| Predicted by SNAP2: | A: N (72%), C: N (66%), D: D (75%), E: D (66%), F: D (63%), G: D (63%), H: D (66%), I: N (82%), K: D (80%), L: N (72%), M: N (78%), N: D (53%), P: D (80%), Q: N (61%), R: D (80%), S: N (57%), T: N (82%), W: D (80%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, W: D, Y: D, |
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[hide] Pharmacogenetics of drug transporters in the enter... Pharmacogenomics. 2011 May;12(5):611-31. Stieger B, Meier PJ
Pharmacogenetics of drug transporters in the enterohepatic circulation.
Pharmacogenomics. 2011 May;12(5):611-31., [PMID:21619426]
Abstract [show]
This article summarizes the impact of the pharmacogenetics of drug transporters expressed in the enterohepatic circulation on the pharmacokinetics and pharmacodynamics of drugs. The role of pharmacogenetics in the function of drug transporter proteins in vitro is now well established and evidence is rapidly accumulating from in vivo pharmacokinetic studies, which suggests that genetic variants of drug transporter proteins can translate into clinically relevant phenotypes. However, a large amount of conflicting information on the clinical relevance of drug transporter proteins has so far precluded the emergence of a clear picture regarding the role of drug transporter pharmacogenetics in medical practice. This is very well exemplified by the case of P-glycoprotein (MDR1, ABCB1). The challenge is now to develop pharmacogenetic models with sufficient predictive power to allow for translation into drug therapy. This will require a combination of pharmacogenetics of drug transporters, drug metabolism and pharmacodynamics of the respective drugs.
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No. Sentence Comment
100 Gene name Transporter SNP Protein Population size (n) In vitro function Ref. Liver uptake transporters (cont.) SLCO2B1 (cont.) OATP2B1 (cont.) c.1457C>T p.S486F N/A Reduced Vmax Increased transport activity [148] [149] SLC22A1 OCT1 c.41C>T p.S14F N/A Increased MPP transport Reduced metformin transport [225] [155] c.123C>T c.181C>T p.R61C N/A Reduced transport activity [225,226] c.253C>T p.L85F N/A Unchanged [225] c.262C>T p.C88R N/A MPP transport absent, TEA and serotonin transport reduced [226] c.480G>C p.F160L N/A Unchanged [155,225,226] c.566C>T p.S189L N/A Unchanged MPP transport Reduced metformin transport [225] [155] c.659G>T p.G220V N/A Absent [155,225] c.848C>T p.P263L N/A Absent [227] c.859G>C p.R287G N/A Absent [227] c.1022C>T p.P341L N/A Reduced MPP transport Normal metformin transport [225] [155] c.1025G>A p.R342H N/A Unchanged [155,225] c.1201G>A p.G401S N/A No MPP transport No metformin transport No MPP transport, reduced TEA and serotonin transport [225] [155] [226] c.1222A>G p.M408V N/A Unchanged [225] c.1391G>A p.V461I N/A Unchanged [225] c.1386-1170G>A p.G465R N/A Absent [155,225] c.1386-1100G>T p.R488M N/A Unchanged [225] SLC22A3 OCT3 c.131C>T p.T44M N/A Unchanged [157] c.346G>T p.A116S N/A Reduced transport activity [157] c.1160G>T p.M370I N/A Reduced transport activity [228] c.1199C>T p.T400I N/A Reduced transport activity [157] c.1316C>T p.A439V N/A Reduced transport activity [157] c.1423G>A p.G475S N/A Reduced transport activity [157] Liver efflux transporters SLC47A1 MATE1 c.28G>T p.V10L N/A Unchanged [171] c.191G>A p.G64D N/A Reduced transport activity, reduced drug resistance Loss of transport activity [170] [171] c.373C>T p.L125F N/A Reduced transport activity (substrate dependent) [170] c.404T>C p.V159M N/A Reduced transport activity [229] c.929C>T p.A310V N/A Reduced transport activity [171] c.983A>C p.D328A N/A Reduced transport activity [171] c.1012G>A p.V338I N/A Reduced transport activity (substrate dependent) Reduced transport activity [170] [229] c.1421A>G p.N474S N/A Reduced transport activity [171] c.1438G>A p.V480M N/A Reduced transport activity, reduced drug resistance [170] For more information on members of the SLC superfamily of transporters please consult [301] and for more information of ABC transporters please consult [302].
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ABCC4 p.Val159Met 21619426:100:1755
status: NEW