ABCMdb

ABCC7 p.Gln1291Arg

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Publications

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. Login to comment
159 MRP2-Gln1382 is located in the highly conserved Q-loop of NBD2 and a comparable substitution (Gln1291Arg) has been reported in CFTR (ABCC7) in cystic fibrosis patients. Login to comment

PMID: 11341822 [PubMed] Zou X et al: "ATP hydrolysis-coupled gating of CFTR chloride channels: structure and function."

No. Sentence Comment

194 Interestingly, even relatively conserved mutations of these two glutamine residues (e.g., Q493R in NBD1 and Q1291R or Q1291H in NBD2) in the CFTR cause CF (Figure 3). Login to comment

PMID: 11788611 [PubMed] Berger AL et al: "Mutations that change the position of the putative gamma-phosphate linker in the nucleotide binding domains of CFTR alter channel gating."

No. Sentence Comment

211 Two relatively uncommon missense mutations have been described at Gln-1291, Q1291H and Q1291R (43),4 and a single chromosome was reported to encode a variation at Gln-493, Q493R.4 The relatively mild gating abnormalities we observed for these variants suggest that if they cause CF, altered processing or some other abnormality may be the cause for the loss of CFTR function. Login to comment

PMID: 11933191 [PubMed] Ravnik-Glavac M et al: "DHPLC screening of cystic fibrosis gene mutations."

No. Sentence Comment

42 The following mutations have been studied: exon 3: W57G, R74W, R75Q, G85E, 394delTT, 405+ 1G>A; exon 4: E92X, P99L, 441delA, 444delA, 457TAT>G, D110H, R117C, R117H, A120T, 541delC, 544delCA, Q151X, 621+1G>T, 662- 2A>C; exon 7: 1078delT, F331L, R334W, I336K, R347C, R347P, A349V, R352Q, 1221delCT; exon 10: S492F, Q493X, 1609delCA, deltaI507, deltaF508; exon 11: G542X, S549N, G551D, R553X, A559T, R560K, R560T; exon 13: K716X, Q685X, G628R, L719X; exon 17b: H1054D, G1061R, 3320ins5, R1066H, R1066L, R1070Q, 3359delCT, L1077P, H1085R, Y1092X; exon 19: R1162X, 3659delC, 3662delA, 3667del4, 3737delA, I1234V, S1235R, 3849G>A; exon 20: 3860ins31,S1255X,3898insC,3905insT,D1270N, W1282X, Q1291R; and exon 21: N1303H, N1303K, W1316X. Login to comment

PMID: 20522854 [PubMed] Sermet-Gaudelus I et al: "Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis."

No. Sentence Comment

84 A second mutation was subsequently identified in all three (621+3A/G, R933G and Q1291R) while the other two with diagnostic scores in the normal range had no other mutation and were asymptomatic at follow-up. Login to comment
130 Table 3 Genotypes of the children with HIRT according to the diagnostic score cut-off in the 21 patients with reliable NPD tests; results after extensive genetic analysis CFTR genotypes Diagnosis score >0.27 (8 patients) £0.27 (13 patients) A/A 0 F508del/621+3A/G F508del/Q1291R A/AB F508del/R347H F508del/R117H;T7 W846X/R117C n¼2 F508del/R1070W 2183AA/G/L206W F508del/3272-26A/G F508del/R117H;T7; n¼4 A/D 0 F508del/R933G G551D/R352Q B/D G622D/3849+45G/A 0 A/0 F508del/0 n¼2 0 0/0 3 0 0, no identified mutation; A, CF-causing mutation; B, mutation associated with cystic CFTR-related disorders; C, mutation with no clinical consequence ; D, mutation of unknown or uncertain clinical relevance; AB, mutation that is associated with a wide phenotypic spectrum that might belong to either group A or B. CFTR, cystic fibrosis transmembrane conductance regulator; HIRT, hypertrypsinaemia; NPD, nasal potential difference. Login to comment

PMID: 16158173 [PubMed] Takahashi K et al: "ABC proteins: key molecules for lipid homeostasis."

No. Sentence Comment

52 A comparable amino acid substitution, Q1291R, in CFTR was observed in patients with cystic fibrosis, and the Q1291R CFTR shows no chloride channel function although it reaches the plasma membrane as a fully glycosylated mature protein.28 A missense mutation of the corresponding glutamine in the second NBF of multidrug resistance protein 2 (MRP2, ABCC2) was detected in a patient with Dubin-Johnson syndrome (DJS), a hereditary disease characterized by hyperbilirubinemia. Login to comment

PMID: 16377077 [PubMed] Wada M et al: "Single nucleotide polymorphisms in ABCC2 and ABCB1 genes and their clinical impact in physiology and drug response."

No. Sentence Comment

87 The comparable amino acid substitution, Q1291R, in CFTR was observed in patients suffering from cystic fibrosis [60]. Login to comment
88 It has also been reported that the CFTR (Q1291R) shows no chloride channel function although it reaches the plasma membrane as a fully glycosylated mature protein. Login to comment

PMID: 12395335 [PubMed] Hashimoto K et al: "Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome."

No. Sentence Comment

206 This water molecule is the most likely candidate for attacking water during ATP hydrolysis.38 The comparable amino acid substitution, Q1291R, in CFTR was observed in patients with cystic fibrosis.39 It has also been reported that the Q1291R CFTR shows no chloride channel function, although it reaches the plasma membrane as a fully glycosylated mature protein. Login to comment

PMID: 7525450 [PubMed] Dork T et al: "Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients."

No. Sentence Comment

78 (*) 1833delT Deletion of T at 1833 Exon 12 1 (0.1%) C2 Schwartz et al. (*) L619S T-+C at 1988 Exon 13 1 (0.1%) D3 This study 2143delT Deletion ofT at 2143/2144 Exon 13 5 (0.7%) BI DOrk et al. (1992b) G673X G-->T at 2149 Exon 13 l (0.1%) C2 This study 2183AA---)G Deletion of A at 2184 and A--~G at 2183 Exon 13 4 (0.6%) D5, B5 Bozon et al. (1994) 2184delA Deletion of A at 2184 Exon 13 2 (0.3%) A2 Chevalier-Porst et al. 1994, this study 2184insA Insertion of A at 2184 Exon 13 4 (0.6%) C2, B3, D3 This study L719X T-->A at 2288 Exon 13 1 (0.1%) B3 This study 2789+5 G--+A G--+A at 2789+5 lntron 14b 6 (0.9%) D3, B3 Highsmith et al. (*) 2991de132 Deletion of 32 bp from 2991-3022 Exon 15 2 (0.3%) D3 D6rk et al. (1994b) 3100insA Insertion of A at 3100 Exon 16 1 (0.1%) C2 This study I1005R T--+G at 3146 Exon 17a 3 (0.4%) A2 This study 3272-26 A--~G A--+G at 3272-26 Intron 17a 6 (0.9%) D3, A2 Fanen et al. (1992) LI059X T-~G at 3308 Exon 17b 1 (0.1%) C2 This study R1066C C-->T at 3328 Exon 17b 2 (0.3%) B3 Fanen et al. (1992) LI077P T---~Cat 3362 Exon 17b 1 (0.1%) A3 Bozon et al. (1994) YI092X C--+A at 3408 Exon 17b 2 (0.3%) C2 Bozcm et al. (1994) R1162X C--~T at 3616 Exon 19 2 (0.3%) C2 Gasparini et al. (1991) 3659de1C Deletion of C at 3659 Exon 19 4 (0.6%) C2 Kerem et al. (1990) 3849+10 kB C---)T C--+T at 3839+10 kB lntron 19 7 (1.0%) B l, D3 Highsmith et al. (*) 3850-3 T--+G T-->G at 3850 3 lntron 19 1 (0.1%) A2 D6rk et al. (1993a) S 1251N G---~Aat 3884 Exon 20 2 (0.3 %) C2 Kfilin et al. (1992a), Mercier et al. (1993) 3905insT Insertion of T at 3905 Exon 20 1 (0.1%) n.p. Liechti-Gallati et al. (1992) WI282X G---~Aat 3978 Exon 20 5 (0.7%) B3 Vidaud et al. (1990) Q1291R A--+G at 4004 Exon 20 1 (0.1%) B3 This study N1303K C---~Gat 4041 Exon 21 16 (2.3%) BI,A1 Osborne et al. (1991) 4114 ATA--~TT Deletion of A and A--~T at 41144116 Exon 22 1 (0.1%) B3 D6rk et al. (1993d) 4374+1 G-+T G--+T at 4374+1 Intron 23 1 (0.1%) D5 D6rk et al. (1993a) Total 668 (95.4%) ~'Mutations are designated according to the suggested nomenclature (Beaudet and Tsui 1993) b Numbers of nucleotides refer to the cDNA sequence (Riordan et al. 1989) c Exon and intron numbers are described (Zielenski et al. (1991a) a Frequency data are given as number (relative fraction) of alleles among 700 German CF chromosomes e Haplotypes of extragenic and intragenic dimorphic markers (Esti- viii et al. 1987; D0rk et al. 1992a) were classified as listed in the appendix (see below), n.p., noninformative phase. Login to comment
108 (4) The mutation Q1291R affects the last codon of exon 20, within the CFTR region coding for the second nucleotide-binding domain. Login to comment
110 The predicted amino acid substitution Q1291R might be located within the centre region of the conserved "ATP-binding cassette" (Riordan et al. 1989) and thus may impair the regulation of CFTR. Login to comment

PMID: 7521710 [PubMed] Ravnik-Glavac M et al: "Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene."

No. Sentence Comment

46 cd,e,f.gformatjon of heteroduplexes in DNA samples containing the following mutations increases the sensitivity to 100%: 1833delT; E827X; Q1291R; G551D, R553X, R553Q; I1234V, 3850-3T-G; respectively. Login to comment
97 Mutations resolved due to specific heteroduplex bands on MDE/glycerol gels were for example: 1833delT, E827X and Q1291R. Login to comment
121 1078delT (35), L327R (Ravnik-Glavac a al., unpublished), R334W (36), D36K (31), R347L (26), R347P (14), A349V (26), R352Q (30), 1221delCT (34); Exon 8: W401X (31), 1342-1G-C (25); Exon 9: G458V (37), 1525 -1G-A (38); Exon 10: S492F (34), Q493X (39), 1609delCA (40,17), deltaI507 (39,41), deltaF5O8 (3), 1717-1G-A (39,42); Exon 11: G542X (39), S549N, G551D, R553X (43), R553Q (44), A559T (43), R560K (Fine et al., pers. comm.), R560T (39); Exon 12: Y563N (39), 1833delT (Schwartz et al., pers. comm.), P574H (39), 1898 + 1G-C (31), 1898+3A-G (Ferrari et al., pers. comm.); Exon 13: G628R(G-C) (31), Q685X (Firec et al., pers. comm.), K716X (26), L719X (Dork etal., pers. comm.), 2522insC (15), 2556insAT (45), E827X (34); Exon 14a: E831X (Ffrec et al., pers. comm.), R851X (29), 2721delll (31), C866Y (Audrezet et al., pers. comm.); Exon 14b: 2789+5G-A (Highsmith et al., pers. comm.); Exon 15: 2907denT (21), 2991del32 (Dark and TQmmler, pers. comm.), G970R (31); Exon 16: S977P, 3100insA (D6rk et al., pers. comm.); Exon 17a: I1005R (Dork and TQmmler, pers. comm.), 3272-1G-A (46); Exon 17b: H1054D (F6rec et al., pers. comm.), G1061R (Fdrec et al., pers. comm.), 332Oins5, R1066H, A1067T (34), R1066L (Fe"rec etal., pers. comm.), R1070Q (46), E1104X (Zielenski el al., pers. comm.), 3359delCT (46), L1077P (Bozon « a/., pers. comm.), H1085R (46), Y1092X (Bozon etal., pers. comm.), W1098R, M1101K (Zielenski et al., pers. comm.); Exon 18: D1152H (Highsmith et al., pers. comm.); Exon 19:R1162X (36), 3659delC (39), 3662delA (25), 3667del4 (Chillon et al., pers. comm.), 3737ddA (35), 3821ddT (15), I1234V (35), S1235R (31), Q1238X (26), 3849G-A (25), 385O-3T-G (38); Exon20:3860ins31 (Chillon etal., pers. comm.), S1255X (47), 3898insC (26), 3905insT (Malik et al., pers. comm.), D127ON (48), W1282X (49), Q1291R (Dork et al., pers. comm.), Exon 21: N1303H (35), N13O3K (50), W1316X (43); Exon 22: 11328L/4116delA (Dork and TQmmler, pers. comm.), E1371X (25); Exon 23: 4374+ 1G-T (38); Exon 24: 4382delA (Claustres et al., pers. comm.). Login to comment

PMID: 23921386 [PubMed] Randak CO et al: "ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites."

No. Sentence Comment

321 Mutation Q1291R has been found in patients with cystic fibrosis. Login to comment

PMID: 25887396 [PubMed] Dong Q et al: "Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia."

No. Sentence Comment

411 Interestingly, a mutation at this position, Q1291R, has been described in a pancreatic insufficient CF patient carrying the F508del mutation on the other chromosome (84). Login to comment

PMID: 25910067 [PubMed] Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."

No. Sentence Comment

390 L1077P c.3230T>C CF-PI CF-causing p.Leu1077Pro Y1092X(C>A) c.3276C>A CF-PI CF-causing p.Tyr1092* M1137V c.3409A>G CFTR-RD nd p.Met1137Val D1152H c.3454G>C CF-PI,CF-PS,CFTR-RD varying clinical consequence p.Asp1152His R1162X c.3484C>T CF-PI CF-causing p.Arg1162* D1168G c.3503A>G CFTR-RD nd p.Asp1168Gly 3667ins4 c.3535_3536insTCAA CF-PI CF-causing p.Thr1179IlefsX17 S1206X c.3617C>A uncertain: CF-PI and/or CF-PS nd p.Ser1206* I1234V c.3700A>G CF-PI,CF-PS CF-causing p.Ile1234Val S1235R c.3705T>G CFTR-RD non CF-causing p.Ser1235Arg 3849+10kbC>T c.3717+12191C>T CF-PI,CF-PS CF-causing V1240G c.3719T>G CFTR-RD nd p.Val1240Gly G1244R c.3730G>A uncertain: CF-PI and/or CF-PS nd p.Gly1244Arg G1244E c.3731G>A CF-PI,CF-PS CF-causing p.Gly1244Glu G1247R(G>C) c.3739G>C CF-PS nd p.Gly1247Arg W1282X c.3846G>A CF-PI CF-causing p.Trp1282* Q1291R c.3872A>G CF-PI,CF-PS,CFTR-RD nd p.Gln1291Arg 4016insT c.3884_3885insT CF-PI CF-causing p.Ser1297PhefsX5 4040delA c.3908delA CF-PI nd p.Asn1303ThrfsX25 N1303K c.3909C>G CF-PI CF-causing p.Asn1303Lys ex22-24del c.3964-3890_4443+3143del9454ins5 CF-PI nd ex22,23del c.3964-78_4242+577del1532 CF-PI CF-causing 4168delCTAAGCC c.4036_4042del CF-PI nd p.Leu1346MetfsX6 G1349D c.4046G>A CF-PI CF-causing p.Gly1349Asp H1375P c.4124A>C uncertain: CF-PI and/or CF-PS nd p.His1375Pro S1455X c.4364C>G CF-PS,CFTR-RD nd p.Ser1455* Q1476X c.4426C>T CFTR-RD nd p.Gln1476* nd,Not determined.According to the three rules described (see Materials and Methods),each mutated allele was classified according to its clinical outcome.It was impossible to univocally assign 16 of the 125 different mutated alleles to one or more macrocategories.A comparison with the CFTR2 project (11) (http://www.cftr2.org) is shown.The alleles are ordered according to their nucleotidic position. Login to comment