ABCMdb

ABCC4 p.Val159Met

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Publications

PMID: 21619426 [PubMed] Stieger B et al: "Pharmacogenetics of drug transporters in the enterohepatic circulation."

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]. Login to comment