ABCC7 p.Trp1282Gly
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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.Trp1282Gly 16006996:56:230
status: NEW
PMID: 17718859
[PubMed]
Faucz FR et al: "Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles."
No.
Sentence
Comment
61
One was detected by DGGE analysis and direct sequencing of exon 20 showing a substitution of T to G at nucleotide 3976, named W1282G, (p.Trp1282Gly).
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ABCC7 p.Trp1282Gly 17718859:61:126
status: NEWX
ABCC7 p.Trp1282Gly 17718859:61:137
status: NEW80 Mutations G85E, R334W, R553X, 62111G.A, 1717-8G.A, G1069R and W1282G were associated with haplotypes not observed in the normal CFTR genes.
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ABCC7 p.Trp1282Gly 17718859:80:62
status: NEW85 In addition, 16 other mutations were characterized, including two novel mutations, W1282G and 232del18.
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ABCC7 p.Trp1282Gly 17718859:85:83
status: NEW
PMID: 18499536
[PubMed]
Visca A et al: "Improvement in clinical markers in CF patients using a reduced glutathione regimen: an uncontrolled, observational study."
No.
Sentence
Comment
43
65 64 71 28.5 28 30 9 5 6 PA PA none 3, F, 19 DF508/G1244E 47 48 55 43 43 48 3 3 9 PA b PAb PA 4, M, 5 DF508/R347P NA NA NA 17 17.5 19 33 33 40 SA SA none 5, M, 24 W1282G/G542X 60 58 70 51 51.5 57 3 3 7 BC BC BC 6, F, 14 3659delC/?
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ABCC7 p.Trp1282Gly 18499536:43:164
status: NEW64 15.1 15.3 1 0 36 30 3, F, 19 DF508/G1244E 16.3 18.3 0 0 9 18 4, M, 5 DF508/R347P 14.7 15.4 0 1 11 11 5, M, 24 W1282G/G542X 17.8 19.7 1 0 16 20 6, F, 14 3659delC/?
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ABCC7 p.Trp1282Gly 18499536:64:110
status: NEW