ABCMdb

ABCC7 p.His139Gln

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Publications

PMID: 21150129 [PubMed] Yamamoto YH et al: "A novel ER J-protein DNAJB12 accelerates ER-associated degradation of membrane proteins including CFTR."

No. Sentence Comment

86 Since the highly conserved HPD motif in J-domains is generally required for their interaction with the partner Hsp70 family chaperones (Kampinga and Craig, 2010), we constructed a DNAJB12 mutant carrying a substitution mutation that alters this HPD motif to QPD (H139Q). Login to comment
87 When the H139Q mutant version of DNAJB12- Flag was expressed in HeLa cells, its expression level was almost comparable to that of wild-type DNAJB12-Flag (compare lane 3 with lane 2 in the bottom panel). Login to comment
106 On the other hand, the coexpression of the H139Q mutant version of DNAJB12-Flag gave a more modest effect, as only the level of the C form was decreased significantly (lane 3) (see Discussion section for the interpretation of this result). Login to comment
107 As shown in the lower panel of Fig. 3B, GFP-WT-CFTR was co-immunoprecipitated efficiently with the wild-type DNAJB12 but not with the H139Q mutant, indicating that the HPD motif in the J-domain of DNAJB12 is important for the efficient binding Fig. 2. Login to comment
117 (A) HeLa cells were mock-transfected or transfected with a plasmid to express DNAJB12-Flag or DNAJB12 H139Q-Flag. Login to comment
183 This association was abolished by a mutation (H139Q) in the J-domain of DNAJB12 (Fig. 3A, B). Login to comment

PMID: 24958810 [PubMed] Sharma H et al: "Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers."

No. Sentence Comment

82 SSCP analysis and subsequent DNA sequencing further revealed eleven mutations, viz., p.Gly480Ser, p.Ser549Asn, p.Arg518Lys, p.Gly126Cys, p.Ala141Gly, p.His139Gln, p.Ser118Pro, p.Arg170Cys, p.Glu585Gln, p.Met281Arg, p.Arg933Thr and two intronic variants c.1679+24G.T, c.1766+48G.C. Login to comment
94 Genotype Number of CAVD subjects (n 5 60) Number of healthy controls (n 5 50) p.Phe508del/U 11 ND p.Phe508del/5T 5 ND 5T/5T 8 ND 5T/U 9 7 p.Arg117His/7T 2 ND p.Arg117His/5T 2 ND p.Arg933Thr/U 1 ND p.His139Gln/U 1 ND p.Ser118Pro/c. Login to comment
147 Among the eight novel mutations identified, p.Ser118Pro, p.Met281Arg, p.Gly126Cys, p.Arg933Thr were predicted to be damaging, whereas p.Arg518Lys, p.Ala141Gly, p.His139Gln, p.Glu585Gln were possibly neutral mutations (http://genetics.bwh.harvard.edu/ pph2/). Login to comment

PMID: 25042876 [PubMed] Sharma H et al: "Function, pharmacological correction and maturation of new Indian CFTR gene mutations."

No. Sentence Comment

4 Methods: We used Western blot, pharmacology and iodide efflux to study CFTR maturation and chloride transport in BHK cells expressing pEGFP-CFTR constructs for L69H, F87I, S118P, G126S, H139Q, F157C, F494L, E543A, S549N, Y852F and D1270E. Login to comment
33 Because the cellular and functional data on these mutations can improve CF genetic counseling, we examined here the functional and cellular consequences of eleven rare missense mutations, L69H, F87I, S118P, G126S, H139Q, F157C, F494L, E543A, S549N, Y852F and D1270E present in CFTR gene from both classical CF patients and CBAVD patients, which have been detected during molecular diagnosis of Indian CF patients (Fig. 1). Login to comment
44 The activation of nine CFTR mutants F87I, S118P, G126S, H139Q, F157C, F494L, E543A, Y852F and D1270E was not significantly different from WT-CFTR (Fig. 3A for example of traces and Fig. 3B for a summary). Login to comment
49 Mutation Nucleotide change Location in CFTR Patient phenotype CFTR dysfunction L69H T to A at 338 N-terminal Patient 1: Pancreatic insufficient, sweat chloride N 60 mEq/L, S. aureus positive; Patient 2: CBAVD Defective CFTR maturation and channel activity, class-II CF mutation F87I T to A at 391 MSD1 CBAVD No dysfunction S118P T to C at 484 MSD1 CBAVD No dysfunction G126S G to A at 508 MSD1 CBAVD No dysfunction H139Q C to G at 549 MSD1 CBAVD No dysfunction F157C T to G at 602 MSD1 CBAVD No dysfunction F494L T to C at 1612 NBD1 CBAVD No dysfunction E543A A to C at 1760 NBD1 CBAVD No dysfunction S549N G to A at 1778 NBD1 Patient 1: Frequent respiratory infection. Login to comment
70 Discussion The present study investigated the potential deleterious functional consequence of novel rare missense mutations 0 2 4 6 8 0.0 0.1 0.2 0.3 WT F87I S118P H139Q F157C NT Time (min) k (min -1 ) 0 2 4 6 8 0.0 0.1 0.2 0.3 G126S S549N Y852F WT F508del L69H Time (min) k (min -1 ) 0 2 4 6 8 0.0 0.1 0.2 0.3 WT F508del F494L D1270E NT E543A Time (min) k (min -1 ) W T F 8 7 I S 1 1 8 P G 1 2 6 S H 1 3 9 Q F 1 5 7 C F 4 9 4 L E 5 4 3 A Y 8 5 2 F D 1 2 7 0 E S 5 4 9 N L 6 9 H F 5 0 8 d e l 0.0 0.5 1.0 1.5 2.0 ns *** *** *** *** ns (k peak - k basal) mutant / (k peak - k basal) WT A B Fig. 3. Login to comment
72 Iodide efflux experiments in transfected BHK-21 cells, WT-CFTR, L69H, F87I, S118P, G126S, H139Q, F157C, F494L, E543A, S549N, Y852F and D1270E. Login to comment
100 In our study, the eleven CFTR mutants i.e. L69H, F87I, S118P, G126S, H139Q, F157C, F494L, E543A, S549N, Y852F and D1270E produced different results. Login to comment
121 The functional characterization of nine other novel mutations associated with CBAVD viz., F87I, S118P, G126S, H139Q, F157C, F494L, E543A, Y852F and D1270E revealed that these mutants did not cause any effect on normal CFTR maturation process and Cl-channel activity. Login to comment
129 Patients profile Eleven rare missense mutations i.e. L69H, F87I, S118P, G126S, H139Q, F157C, F494L, E543A, S549N, Y852F, and D1270E were characterized by using single stranded conformation polymorphism and subsequently by DNA sequencing in Indian infertile CBAVD male patients [7,8]. Login to comment
138 The remaining all nine mutations viz., G126S, Y852F, F87I, S118P, H139Q, F157C, F494L, E543A, and D1270E were identified in Indian infertile males diagnosed with only CBAVD. Login to comment