ABCC7 p.Gln1382Arg
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PMID: 16006996
[PubMed]
Conseil G et al: "Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters."
No.
Sentence
Comment
56
In the kidney, glomeruli and distal collecting tubules express MRP1, and, in the brain, MRP1 appears to form part of the drug permeability barrier Fig. 1 CF (CFTR/ABCC7) Q1291R E1228G Q1238R G1244E/V G1247R G1249R S1251N S1255P/L W1282G/R/C R1283K/M N1303K Y1307C E1321Q K1351E Q1352H R1268Q V1298F T1301I G1302R A1303P R1314W/Q G1321S R1339C Q1347H I1350L G1354R D1361N Q1382R A1450T R1347E R1351P V1359G/M S1368A G1377R G1382S R1392H R1419C R1435Q G1477R G1479R R1492W E1505K DJS (MRP2/ABCC2) NBD1 NBD2 COOH MEMBRANE MSD MSD MSD 12131415161710116 7 8 91 23 4 5TM H2 N Extracellular Intracellular PXE (ABCC6) PHHI (SUR1/ABCC8) Two-dimensional structure of MRP-related proteins.
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ABCC7 p.Gln1382Arg 16006996:56:371
status: NEW
PMID: 16442101
[PubMed]
Frelet A et al: "Insight in eukaryotic ABC transporter function by mutation analysis."
No.
Sentence
Comment
329
[147] Q1382R decreased organic anion (LTC4) transport and substrate-induced ATP hydrolysis Dto.
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ABCC7 p.Gln1382Arg 16442101:329:6
status: NEW
PMID: 16815813
[PubMed]
Choudhuri S et al: "Structure, function, expression, genomic organization, and single nucleotide polymorphisms of human ABCB1 (MDR1), ABCC (MRP), and ABCG2 (BCRP) efflux transporters."
No.
Sentence
Comment
332
This latter missence mutation (Gln1382Arg) is also found in the cystic fibrosis transmembrane conductance regulator gene (CFTR) in patients with cystic fibrosis (D¨ork et al. 1994), suggesting that this mutation could affect the function of MRP2/cMOAT.
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ABCC7 p.Gln1382Arg 16815813:332:31
status: NEW