ABCMdb

ABCC7 p.Lys536Gln

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Publications

PMID: 20551307 [PubMed] Da Paula AC et al: "Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins."

No. Sentence Comment

124 Thus, we identified six residues in 12b-NBD1 (E527Q, E528Q, S531T, K536Q, I539T, and K584E) and 12 residues in 114c-NBD2 (T1263I, P1290T, K1302Q, Y1307N, Q1309K, S1311K, R1325K, V1338T, C1344Y, L1367I, D1394G, and E1409D) (see supplemental Fig. 1 and supplemental Table 1, A and B). Login to comment
150 For example, compare the data for S531T and K536Q in Fig. 2, C and D. Taken together and consistent with the WB data (Fig. 2, A and B, and Table 1), our iodide efflux data suggest that most of the NBD1 and NBD2 mutants exhibited channel activity, arguing that they reach the cell surface. Login to comment
187 TABLE 1 Summary information of CFTR point mutants analyzed in present study CFTR variants Clinical dataa Band C/band Bb (؎S.E., n ‫؍‬ 5) Processingc Normalized processingd Normalized iodide efflux functione (؎S.E., n ‫؍‬ 6) Iodide efflux to processed proteinf % % % % peak intensity % WT-CFTR -g 83 Ϯ 3 77 100 100 Ϯ 8 - Murine - 86 Ϯ 5 66 86 74 Ϯ 4 86 Ϯ 4 E527Q Mild CF 64 Ϯ 5 49 63 46 Ϯ 4 73 Ϯ 4 E528Q - 86 Ϯ 5 79 102 135 Ϯ 16 132 Ϯ 10 S531T - 87 Ϯ 6 81 105 71 Ϯ 5 67 Ϯ 5 K536Q - 69 Ϯ 3 42 54 51 Ϯ 4 94 Ϯ 3 I539T Revertant 112 Ϯ 5 81 105 49 Ϯ 6 46 Ϯ 5 L581F - 118 Ϯ 3 83 107 72 Ϯ 5 67 Ϯ 3 L581F/K584E - 125 Ϯ 2 77 100 100 Ϯ 12 100 Ϯ 8 T1263I Mild CF 75 Ϯ 3 76 98 31 Ϯ 8 31 Ϯ 5 P1290T Asymptomatic 87 Ϯ 3 82 106 92 Ϯ 10 86 Ϯ 6 K1302Q - 72 Ϯ 3 77 100 37 Ϯ 2 37 Ϯ 2 Y1307N - 82 Ϯ 2 76 98 70 Ϯ 5 71 Ϯ 3 Q1309K - 79 Ϯ 4 77 100 26 Ϯ 2 26 Ϯ 3 S1311K - 73 Ϯ 4 72 93 33 Ϯ 7 35 Ϯ 5 R1325K - 64 Ϯ 6 78 101 47 Ϯ 2 46 Ϯ 4 V1338T - 88 Ϯ 2 77 100 37 Ϯ 11 37 Ϯ 6 C1344Y - 71 Ϯ 4 76 98 86 Ϯ 4 87 Ϯ 4 L1367I - 72 Ϯ 5 80 103 36 Ϯ 5 34 Ϯ 5 D1394G - 78 Ϯ 4 86 111 93 Ϯ 12 83 Ϯ 8 E1409D - 70 Ϯ 3 70 90 43 Ϯ 5 47 Ϯ 4 a Data from the CFTR mutation database. Login to comment

PMID: 7914197 [PubMed] Hoof T et al: "Cystic fibrosis-type mutational analysis in the ATP-binding cassette transporter signature of human P-glycoprotein MDR1."

No. Sentence Comment

26 20575 CF-type Mutations in MDRl TABLEI Oligonucleotides used in RTIPCR assays, mutagenesis,and sequencing Sequence Primer' Applicationb 5'-GAGGTGAAGAAGGGCCAGACG-3' mdrlP3175s* P 5'-TTCTGGATGGTGGACAGGCGGTGA-3' mdrlP3716a*P 5'-GTGCAGAGTGGGCAGACGGTG-3' mdrl-1249s 5'-TTACGAACTGTAGACAAACGATGAG-3' 5'-GAGGAGCAGCTTATG-3' 5'-GTGGTTCAGGTGGCT-3' mdrl-1702s S 5'-GAAAACATTCGCTATGGCCGTGAAAATG-3' mdrl-1456s S 5'-GCAGCTGATGAATCC-3' mdrl-1918s S 5"GTGGTGGGCAGgaCAGAGGATCGC-3' mdrl-1595sM (K536Q) 5'-GTTGAGTGGTGuCAGAAGCAGAG-3' mdrl-1590sM (G534D) 5'-GTGGTGGGCAGwCAGAGGATCGC-3' mdrl-1595sM (K536R) 5"CCAGTTGAGGGGTGGGCAG-3' mdrl-1587sM(S532R) 5'-GAAAACATTCGsGCCGTGAAAATG-3' mdrl-1486sM (AY490) 5'-GGCAAGGGCATCCTGGCTGCAGA-3' alh79s* P 5'-TAACGGGCCAGAACATTGGCATT-3' alh521a* P p, s p, s S mdrl-1781a mdrl-1076s The number indicates the positionof the first primer nucleotide in thecorresponding EMBL file cDNA sequences of rabbit aldolase A (ald), human MDRl (mdrl),or CHOMDRl (mdrlc);s, sense direction; a, antisense direction tocDNA sequence. Login to comment
90 The localization ofAY490, S532R, G534D, K536R, K536Q, and AY490-K536Q in the N-terminal half of MDRl is shown in Fig. 1. Login to comment
44 The double mutant AY490-K536Q was constructed by digestion of the pBSmdrl single mutants AY490 and K536Q with ApaI and religationof mutated fragments. Login to comment
97 All G418-preselected clones grew in the presence of the lowest concentrations of 50 ng of adriamycidml or 100 ng of colchicine/ml (Fig. 21, but only the introduction of wild-type MDRl, K536Q MDRl, or K536R MDRl intoCHO K1 recipients hadconferred resistance toboth drugs above the base-line level of the antisense MDRl transfection control (Fig. 2). Login to comment
161 Autoradiogram of 75-pg gel-separatedmembraneproteins of wild-type (A),K536Q (B),and K536R MDRls CHO K1 cells (C) that had been photolabeled with["'Iliodomycin in thepresence of (from left to right in eachpanel) 0,15,and 300 nM vinblastine. Login to comment
190 The phenotype of multidrug resistance and collateral sensitivity was retained in the K536Q and K536R MDRl variants. Login to comment
192 K536Q P-glycoprotein was 2-5-fold less drug resistant thanwild type (which also explains the inefficacyof the K536Q substitution in the AY490 MDRl mutant), but K536R P-glycoprotein was more active than wild type in CHO K1 transfectants. Login to comment