ABCMdb

ABCC7 p.Glu725Lys

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Publications

PMID: 11950844 [PubMed] Xie J et al: "A short segment of the R domain of cystic fibrosis transmembrane conductance regulator contains channel stimulatory and inhibitory activities that are separable by sequence modification."

No. Sentence Comment

231 One amino acid substitution, noted in a patient with CF, is reported in the CF Mutation Consortium data base in the NEG1 region (E725K). Login to comment

PMID: 12361483 [PubMed] Chen EY et al: "The PEST sequence does not contribute to the stability of the cystic fibrosis transmembrane conductance regulator."

No. Sentence Comment

48 The E725K/E726K mutant was included to test if alteration of charges would affect the function of the PEST sequence. Login to comment
51 However, since both S728A and T717A mutant have a high PEST score (T717A mutant alone has PEST score of +3.87), we added an additional E725K mutation to the T717A mutant just to further disrupt the PEST sequence. Login to comment
109 Misfolded or misassembled proteins, such as processing defective ∆F508 mutant CFTR, are recognized and retained in the ER by the quality control system in the ER; although the exact mechanism for recognition is yet to be elucidated, evidence indicate that the prolonged association with mo- Table 1: Mutations introduced into the predicted PEST sequence of CFTR Mutant Sequence PEST Score Wild-type (WT) 716 - KTPLQMNGIEEDSDEPLER - 734 +6.91 Poly-Valine 716 - KTPLQMNGIVVVVVVPLER - 734 -26.19 E725K/E726K 716 - KTPLQMNGIKKDSDEPLER - 734 N/A S728A 716 - KTPLQMNGIEEDADEPLER - 734 +4.07 T717A/E725K 716 - KAPLQMNGIKEDSDEPLER - 734 N/A * Residues in bold are the mutations introduced. Login to comment
134 Mature Immature WT CFTR Mature Immature ∆F508 CFTR WT/∆F508 Poly-Valine S728A E725K/E726K T717A/E725K A. B. Login to comment
135 205 130 90 kDa 100 kD 81 kD Immature ∆F508 Poly-Valine ∆F508/Poly-Valine ∆F508/S728A ∆F508/E725K/E726K ∆F508/T717A/E725K volved in protein-protein interactions: direct interaction with ubc9 [33] and ligand recognition [34,35]. Login to comment
153 A) Pulse-chase radiograph for non-processing defective constructs: WT, WT/E725K/E726K, and WT/T717A/E725K; results for WT/S728A not shown, but is similar to that of WT. Login to comment
154 B) Pulse-chase radiograph for processing defective constructs: ∆F508, ∆F508/poly-valine, ∆F508/E725K/E726K, and ∆F508/T717/E725K; results for WT/Poly-valine and ∆F508/S728A not shown but they show similar results as ∆F508. Login to comment
156 Hours 0 2 4 6 8 12 24 E725K/E726K Mature Immature T717A/E725KMature Immature WT Mature Immature A. Login to comment
157 Hours 0 2 4 6 8 12 24 ∆∆∆∆F508Mature Immature ∆∆∆∆F508/ E725K/E726K Mature Immature ∆∆∆∆F508/ T717A/E725K Mature Immature Mature Immature ∆∆∆∆F508/ Poly-Valine B. mutant protein to not mature suggests otherwise. Login to comment
177 0 0.1 1 10 100 1000 [Trypsin] (µg/ml) T717A/E725KMature Immature E725K/E726KMature Immature S728AMature Immature WTMature Immature Poly-ValineMature Immature ∆F508Mature Immature 0 0.1 1 10 100 1000 [Trypsin] (µg/ml) ∆F508/ Poly-Valine Mature Immature ∆F508/ S728A Mature Immature ∆F508/ E725K/E726K Mature Immature ∆F508/ T717A/E725K Mature Immature the PEST region of another nuclear SUMO-1 target protein, HIPK2 [48]. Login to comment
202 WT/∆F508Mature Immature Poly-ValineMature Immature S728AMature Immature E725K/E726KMature Immature T717A/E725KMature Immature - + - + WT CFTR ∆∆∆∆F508 CFTR 2µµµµM MG-132 tion at 44,000 × g for 45 min. at 4°C and resuspended with 300 µl of TBS (Tris-buffered saline; 10 mM Tris-HCl, pH 7.5, 150 mM NaCl). Login to comment

PMID: 17719933 [PubMed] Pall H et al: "Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function."

No. Sentence Comment

90 Mutations/Variants Polymorphism 1540 locus T Tract Sweat chloride (mmol/L) ⌬Cl ؉ Iso (mV)* PSC 1 GG 7/7 20.2 -1.2 2 GG 7/7 19.7 -17.3 3 R75Q AA 7/7 14.8 -3.9 4 4521G/A(8T/9T) AA 7/7 19.4 -13.3 5 2694T/G AG 7/7 NP NP 6 GG 7/7 5.1 -12.5 7 NP 5.8 -17.8 8 AA 7/7 9.9 -12.8 9 E725K AG 7/7 56.3 -5.1 10 R75Q AA 7/7 30.3 -5.5 11 4006 - 200G/A, 1233A/T AA 7/9 32.1 -29 12 2694T/G AG 7/7 8.7 -2.4 13 4521G/A, 4700T8/9 AG 7/7 4.8 -3.8 14 1525 - 61A/G AG 7/9 45.3 -2.2 15 3030G/A GG 7/7 18.6 -0.45 16 AA 7/7 7.6 -4.5 17 R75Q AG 7/9 21.6 -1.8 18 1001 ϩ 11C/T AG 7/9 45 1.2 19 AA 7/7 11 -11.5 20 1716G ¡ A AG 7/7 18.9 -20.1 IBD 21 1001 ϩ 11C/T AG 7/9 8.9 -13 22 S1235R/2752 - 26A ¡ G 185 ϩ 324C/T AG 7/7 15 -15 23 AG 7/7 17.8 -20 24 IVS8T5 AA 5/7 4.8 -10.4 25 875 ϩ 40A/G, 125G/C GG 7/7 10.8 -30 26 AG 7/7 22.9 -10.5 27 IVS8T5 AG 5/7 15.1 NP 28 AG 7/7 20.1 -8 29 R75Q GG 7/7 10.1 -17 30 AA 7/7 14 NP 31 Q1352H 4521A(hom), 4700T8/8 AG 7/7 3.5 -35 32 AA 7/7 11.8 -8 33 125G/C AG 7/7 9.4 -33 34 R75Q/IVS8T5 1898 ϩ 152T/A AG 5/7 4 -14 Subjects with IBD were disease control subjects. Login to comment
91 CFTR mutations shown in bold are E725K, S1235R, and 2752 - 26A ¡ G. Login to comment

PMID: 18306312 [PubMed] Gene GG et al: "N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel."

No. Sentence Comment

133 Genotype^Phenotype Correlation in the N-Terminal CFTR MissenseVariants Under StudyÃ Missense varianta Phenotype Second allele (number of patients)b p.P5L CF p.F508del (1), p.P205S (1) p.S50P CBAVD p.F508del (1), p.E115del (1) p.E60K CF p.G542X (1), p.I507del (1) p.R75Q HT p.F508del (3), p.E725K (1) B p.R347H (1), p.R75Q (1), n.i. (4) Br c.1584G4A (2), c.1210-7_1210-6delTT (1), n.i.(3) NT p.F508del (1) CP c.1584G4A (1), n.i. (3) MI n.i. (1) CUAVD n.i. (2) OZ n.i. (2) Normal p.R75Q (1), c.2052_2053insA (1), n.i. (1) p.G85E CF p.F508del (8), p.G542X (2), p.I507del (1), c.580-1G4T (1), p.G85E (1), c.1477_ 1478delCA (1) CBAVD p.G576A (1) HT p.L997F (1),WT (1) p.G85V CF p.F508del (2), p.G542X (2), p.Y1092X (1), c.265715G4A (1), p.A1006E, c.1210-7_1210- 6delTT (1), n.i. (1) p.Y89C CF n.i. (1)c p.E92K CF p.F508del (2), p.Q890X (1), p.L206W (1) CBAVD c.1210-7_1210-6delTT (1) ÃThe recommendations for mutation nomenclature (www.hgvs.org/mutnomen/) were used to name CFTR gene sequence variations at both the nucleotide level and the protein level. Login to comment

PMID: 16128988 [PubMed] Larriba S et al: "Molecular evaluation of CFTR sequence variants in male infertility of testicular origin."

No. Sentence Comment

53 Thirteen CFTR gene sequence variants [p.R75Q, p.I148T, p.T351S, p.F508del, p.G576A, p.R668C, p.E725K, p.V754M, p.D836Y, p.L997F, p.S1235R, IVS8-6(5T) and c.1716G>A] were determined in 11 F1 and 15 F2 individuals (Table 1) giving a frequency of 29.9%. Login to comment
85 Continued No. Phenotype CFTR genotype Associated factors Testicular histologya b c 13 F2 p.I148T p.R75Q No nd 14 F2 p.T351S No nd 15 F2 p.F508del No nd 16 F2 p.E725K No nd 17 F2 p.V754M No nd 18 F2 p.L997F No nd 19 F2 (T)5-(TG)12 No nd 20 F2 (T)5-(TG)12 No nd 21 F2 (T)5-(TG)11 No nd 22 F2 (T)5-(TG)11 No nd 23 F2 c.1716 G>A No nd 24 F2 c.1716 G>A No nd 25 F2 c.1716 G>A No nd 26 F2 c.1716 G>A No nd Phenotype: NOb (SO), non-obstructive severe oligozoospermia; NOb (A), non-obstructive azoospermia; F1, optimal fertility; F2, suboptimal fertility. Login to comment

PMID: 11001817 [PubMed] Chen JM et al: "Definition of a "functional R domain" of the cystic fibrosis transmembrane conductance regulator."

No. Sentence Comment

49 Similarly, E725K and D836Y both occur in well-conserved, FIG. 1. Login to comment