ABCC7 p.Gly126Ser

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PMID: 19181743 [PubMed] Sharma N et al: "Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens."
No. Sentence Comment
6 Novel CFTR mutations identified were L69H, F87I, G126S, F157C, E543A, Y852F and D1270E.
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ABCC7 p.Gly126Ser 19181743:6:49
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74 SSCP analysis performed in patients with only one or no mutation revealed nine further mutations on one allele each including seven new sequence alterations: L69H, F87I, G126S, F157C, E543A, Y852F and D1270E (Table I).
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ABCC7 p.Gly126Ser 19181743:74:170
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79 Pathological predictions confirmed by another computer algorithm (http://genetics.bwh.harvard.edu/pph) revealed L69H, E543 and D1270E as deleterious mutations and other four mutations, F87I, G126S, F157C and Y852F, as benign sequence alterations (Table II).
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ABCC7 p.Gly126Ser 19181743:79:191
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104 None of the patients showed pulmonary or gastrointestinal symptoms of CF, but repeated respiratory infections or bronchitis and raised sweat chloride were documented in a CBAVD patient with F508del/G126S genotype.
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ABCC7 p.Gly126Ser 19181743:104:198
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107 of alleles T5 Reduction of oligo T tract to 5T at 1342-6 Aberrant splicing Intron 8 25 F508del Deletion of 3 bp (CTT or TTT) between 1652 and 1655 Deletion of phenylalanine at 508 Exon 10 11 L69Ha T to A at 338 Leucine to histidine at 69 Exon 3 1 F87Ia T to A at 391 Phenylalanine to isoleucine Exon 3 1 R117H G to A at 482 Arginine to histidine at 117 Exon 4 3 G126Sa G to A at 508 Glycine to serine at 126 Exon 4 1 F157Ca T to G at 602 Phenylalanine to cystine at 157 Exon 4 1 E543Aa A to C at 1760 Glutamate to alanine at 543 Exon 11 1 Y852Fa A to T at 2687 Tyrosine to phenylalanine at 852 Exon 14a 1 3120 þ 1 G-A G to A 3120 þ 1 Aberrant splicing Intron 16 1 P1021S C to T at 3193 Proline to serine at 1021 Exon 17a 1 D1270Ea T to A at 3942 Aspartate to glutamate at 1270 Exon 20 1 Total chromosomes: 100; known mutations: 48%; unknown mutations: 52%.
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ABCC7 p.Gly126Ser 19181743:107:383
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121 Intriguingly, among the seven novel substitution mutations identified, L69H, E543A and D1270E were predicted to be damaging, whereas F87I, G126S, F157C and Y852F were possibly neutral (http://blocks.fhcrc.org/sift/SIFT.html and http://genetics.bwh.
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ABCC7 p.Gly126Ser 19181743:121:139
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129 Other novel mutations (G126S, F157C and Y852F) have been identified as possibly neutral, but are aligned across different species.
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ABCC7 p.Gly126Ser 19181743:129:23
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132 In CBAVD patients, a high frequency of compound heterozygosity with severe/mild or mild/mild mutations has been reported Figure 1 Multiple alignments of CFTR amino acid sequences from different species (human, rhesus monkey, bovine, sheep, pig and mouse) and seven novel substitution mutations (L69H, F87I, G126S, F157C, E543A, Y852A and D1270E) identified in Indian CAVD patients.
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ABCC7 p.Gly126Ser 19181743:132:307
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145 of patients (%) Two mutations detected 22% IVS8-T5/IVS8-T5 5 (10) (TG)12T5/(TG)12T5 2/2 2/2 1/1 1/1, 1/2 2 (4) (TG)12T5/(TG)13T5 1/1 2/1 2/1 (1), 2/2 (1) 1/1 (1), 1/2 (1) 2 (4) (TG)11T5/(TG12)T5 1/2 1/1 2/2 2/2 1 (2) IVS8-T5/F508del (TG)13T5/(TG10)T9 2/2 1/1 1/1 1/1 1 (2) IVS8-T5/R117H (TG)12T5/(TG)12T7 1/1 2/2 2/2 1/1 1 (2) IVS8-T5/Y852F (TG)12T5/(TG)12T7 1/1 1/2 2/1' 1/2 1 (2) IVS8-T5/D1270E (TG)12T5/(TG)12T9 1/1 1/1 2/2 2/2 1 (2) F508del/G126S (TG)10T7/(TG)11T7 2/2 1/1 1/1 1/1 1 (2) R117H/F87I (TG)12T7/(TG)12T7 1/1 2/1 2/2 1/2 1 (2) One mutation detected 52% F508del/?
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ABCC7 p.Gly126Ser 19181743:145:445
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PMID: 21966101 [PubMed] Prasad R et al: "Molecular basis of cystic fibrosis disease: an Indian perspective."
No. Sentence Comment
127 SSCP analysis performed in patients with only one or no mutation revealed nine further mutations on one allele each including seven new sequence alterations: L69H, F87I, G126S, F157C, E543A, Y852F and D1270E (Table 3).
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ABCC7 p.Gly126Ser 21966101:127:170
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130 Table 3 CFTR mutations identified and characterized in the Indian patients with CAVD [12] Mutation Nucleotide change No. of alleles T5 Reduction of oligo T tract to 5T at 1342-6 25 F508del Deletion of 3 bp(CTT or TTT) between 1652 and 1655 11 L69H T to A at 338 1 F87I T to A at 391 1 R117H G to A at 482 3 G126S G to A at 508 1 F157C T to G at 602 1 E543A A to C at 1760 1 Y852F A toT at 2687 1 3120?1G-A G to A 3120?1 1 P1021S CtoT at 3193 1 D1270E T to A at 3942 1 We documented NBD1 and NBD2 as the hotspot identified in the CFTR protein in Indian CF population, whereas the regions known to alter chloride permeability (transmembrane regions) and delta F508 mutation in NBD1 are the hot spot for mutation identification in our genital form of CF cases (obstructive azoospermia).
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ABCC7 p.Gly126Ser 21966101:130:307
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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.
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ABCC7 p.Gly126Ser 25042876:4:179
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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).
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ABCC7 p.Gly126Ser 25042876:33:207
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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).
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ABCC7 p.Gly126Ser 25042876:44:49
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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.
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ABCC7 p.Gly126Ser 25042876:49:369
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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.
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ABCC7 p.Gly126Ser 25042876:70:228
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72 Iodide efflux experiments in transfected BHK-21 cells, WT-CFTR, L69H, F87I, S118P, G126S, H139Q, F157C, F494L, E543A, S549N, Y852F and D1270E.
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ABCC7 p.Gly126Ser 25042876:72:83
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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.
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ABCC7 p.Gly126Ser 25042876:100:62
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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.
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ABCC7 p.Gly126Ser 25042876:121:103
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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].
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ABCC7 p.Gly126Ser 25042876:129:72
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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.
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ABCC7 p.Gly126Ser 25042876:138:39
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