ABCMdb

ABCC7 p.Leu88*

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Publications

PMID: 12658038 [PubMed] Walkowiak J et al: "Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test."

No. Sentence Comment

51 RESULTS Among the patients studied, the following mutations of the CFTR gene were present (n): ⌬F508 (223), 621+G-T (10), N1303K (9), 3849+10kbC-T (6), G542X (5), CFTRdele2,3(21kB) (4), E822X (4), 1717-1G-A (3), E836X (3), G1069-L88X (2), R533X (1), G85E (1), 1677delTA (1), G1069R (1), 1525-1G-A (1), and 2789+5G-A (1). Login to comment

PMID: 15357566 [PubMed] Ngukam A et al: "A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens."

No. Sentence Comment

4 Only a few CFTR mutations have been identified in that population (L88X, M152R, K166E, F508del, 1742delAC, 1525-18G>A, 1540del10, L568X, 1898ϩ1G>T, 1898ϩ5G>T, G970D, 451-458del8, 3121-2A>G, H1085R).1-6 We report here a novel missense mutation in a Laotian patient with congenital bilateral absence of the vas deferens (CBAVD). Login to comment

PMID: 21779199 [PubMed] Jung H et al: "Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis."

No. Sentence Comment

90 del Deletion + - NA NA 7 Q1291X Exon20 4,003 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon13 2,089-2,090 insA Insertion Sequencing - + NA NA 9 L441P Exon9 1,454 T>C Missense Sequencing&DGGE ND - ND NA [19] Abbreviations:IVS,interveningsequence;MLPA,multiplexligation-dependentprobeamplification;ND,notdone;NA,notapplicable;DGGE,denaturinggradientgelelectrophoresis. Login to comment
81 The identified mutations included 3 missense mutations (p.Q98R, p.Q1352H, and p.L441P), 3 nonsense mutations (p.Q220X, p.Q1291X, and p.L88X), 1 duplication with frameshift (c.3908dupA), 1 insertion with frameshift (c.2089-2090insA), 4 splice site mutations (c.1766+2T>C, c.3272-26A>G, c.579+5G>A, and IVS8-T5) and 2 deletion mutations (c.2052delA and c.2623-?_2751+?del). Login to comment

PMID: 9067754 [PubMed] Macek M Jr et al: "Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene."

No. Sentence Comment

155 Preliminary mutation analyses of the CFTR gene in Asian CF patients resulted in the identification of mutations L88X, 1898+1 GÃT, and 1898+5 GÃT (Macek et al., 1992; Crawford et al., 1995; Zielenski et al., 1995). Login to comment

PMID: 8528204 [PubMed] Savov A et al: "Double mutant alleles: are they rare?"

No. Sentence Comment

28 (A) SSCP analysis of the 309 bp PCR product of exon 3 of the CFTR gene (primers 3i-5 and 3i-3); 12% 37.5:1 acrylamide:bisacrylamide gel run at 4°C, 1600 V for 24 h. Lanes 1, 2, 8, 9, 10, normal controls; lane 3, G85E/N heterozygote; lanes 4, 5, 7, L88X/N heterozygotes; lane 6, L88X/ L88X homozygote. Login to comment
31 G1069R and L88X A G->A transition at nucleotide position 3337 (exon 17b) which results in the substitution of arginine for glycine at amino acid position 1069 in the second transmembrane domain of the protein (TM10), in combination with a T-»G transversion at position 395 generating a termination signal at codon 88 was originally identified in the maternal CF allele of a patient from western Bulgaria (7). Login to comment
33 Both patients are compound heterozygotes for the G1069R + L88X allele and AF508 and have a classical CF phenotype with pancreatic insufficiency and severe pulmonary involvement. Login to comment
37 Subsequent SSCP analysis and direct sequencing of exon 3 of the CFTR gene revealed that this patient was in fact a homozygote for the double mutant G1069R + L88X allele (Fig. Login to comment
41 Severe cystic fibrosis with pancreatic insufficiency is present in the G1069R + L88X homozygote and, more important, in the patient who carries G1069R alone. Login to comment
42 Polymorphic analysis of RFLPs flanking the CFTR gene and of intragenic microsatellite repeats demonstrated that all double mutant G1069R + L88X alleles share a common haplotype 1-2-16-30 (for KM. 19-XV.2c-IVS8CA-IVS 17bTA) (8-11). Login to comment
51 Two of the double mutant alleles identified in this study carry one nonsense and one missense mutation (Q2X+R3W and L88X + G1069R). Login to comment
54 In the case of G1069R this is supported by the clinical findings in the Greek patient with this mutation (and without L88X) who has a severe CF phenotype. Login to comment
65 In the case of G1069R + L88X, a patient from the same geographic area has been found to carry G1069R alone, but on a chromosomal background which was different from that of the double mutant allele. Login to comment
66 The different polymorphic characteristics of the two alleles may suggest that the origin of G1069R is independent of that of G1069R + L88X. Login to comment

PMID: 8825494 [PubMed] Zielenski J et al: "Cystic fibrosis: genotypic and phenotypic variations."

No. Sentence Comment

593 Not surprisingly, Rl17H is associated with CF only when the allele also contains Table 2 Examples of complex alleles in the CfTR gene Principal Second site mutationa Location alteration Location Reference R75X exon 3 125G --.. C promoter 57 405 + IG --.. A intron 3 3030G --.. A exon 15 57 R1l7H exon 4 129G --.. C promoter 203 RI17H exon 4 IVS8 : 5T or 7T intron 8 101 R297Q exon 7 IVS8 : 5T or 7T intron 8 60 aF508 exon 10 R553Q exon II 59 aF508 exon 10 1I027T exon I7a 57 8F508 exon 10 deletion of D7S8 500 kb 3' of 186 CfTR S549N exon II R75Q exon 3 205a L619S exon 13 1716G � A exon 10 57 G628R (G � C) exon 13 SI235R exon 19 47 2184insA exon 13 IVS:5T exon 9 J Zielenski, J Bal, 0 Markiewicz, L-C Tsui, unpublished data A800G exon 13 IVS8 : 5T or 7T intran 8 31 S912L exon 15 GI244V exon 20 149 GlO69R exon 17b L88X exon 3 149 3732deiA exon 19 Kl200E exon 19 70 3849 + IOkbC � intron 19 R668C exon 13 57 T SI251N exon 20 F508C exon 10 94 The status of principal mutation may not be clear in every case; e.g. G628R(G --> C) vs S1235R. 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

120 Exon 1: S4X (24), 186-13C-G (F£rec et al., pers. comm.); Exon 2: G27X (Shacldeton and Harris, pers. comm.), Q30X (Chilldn aal., pers. comm.), R31L (Zielenski et al., pers. comm.), Q39X (25); Exon 3: 300delA (Malone et al., pers. comm.), W57G (Ferrari et al., pers. comm.), W57X (26), E60X (Malone et al., pers. comm.), R74W (Claustres et al., pers. comm.), R75Q (27), G85E (28), 394delTT (Claustres et al., pers. comm.), L88X (Maceketal., pers. comm.), L88S (Malone et al., pers. comm.), 405 + 1G-A (Dork and Tummler, pers. comm.); Exon 4: E92K (Chillon et al., pers. comm.), E92X (D6rk a al., pers. comm.), P99L (Schwartz and Holmberg, pers. comm.), 441delA (Zielenski et al., pers. comm.), 444delA (29), 457TAT-C- (F£rec et al., pers. comm., (21), Dl 10H (14), Rl 17C (D6rk et al., pers. comm.), Rl 17H (14), A120T (Chillon et al., pers. comm.), 541delC (30), 556delA (28), I148T (Rininsland et al., pers. comm.), Q151X (Shacldeton et al., pers. comm.), 621 + 1C-T (28), 622-2A-C (31); Exon5:G178R (28), 681delC (Zielenski a al., pers. comm.), 711 + 1G-T (28); Exon 6a: H199Y (Dork and Tummler, pers. comm.), H199Q (Dean etal., pers. comm.), L206W (Claustres et al., pers. comm.), Q220X (Shacldeton and Harris, pers. comm., Schwartz and Holmberg, pers. comm.), 852del22 (32); Exon 6b: 977insA (33); Exon7:F311L(34). Login to comment

PMID: 7512860 [PubMed] Savov A et al: "Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing."

No. Sentence Comment

39 This has permitted us to identify the following previously undescribed alleles: L88X A T - G transversion at nucleotide position 395 in exon 3 was detected in one Bulgarian CF allele of haplotype 2/1/1/16/28/13. Login to comment
59 Among the 6 molecular defects reported in this work, two are clearly defective alleles (L88X and Q2X), as these nucleotide changes lead to a stop codon. Login to comment

PMID: 25553309 [PubMed] et al: "Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis."

No. Sentence Comment

7 del Deletion + - NA NA 7 Q1291X Exon 20 4,003 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon 3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon 13 2,089-2,090 insA Insertion Sequencing - + NA NA 9 L441P Exon 9 1,454 T>C Missense Sequencing & DGGE ND - ND NA [19] Abbreviations: IVS, intervening sequence; MLPA, multiplex ligation-dependent probe amplification; ND, not done; NA, not applicable; DGGE, denaturing gradient gel electrophoresis. Login to comment
10 del Deletion MLPA + - NA NA 7 Q1291X Exon 20 3,871 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon 3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon 13 2,089 dupA Insertion Sequencing - + NA NA 9 L441P Exon 9 1,322 T>C Missense Sequencing & DGGE ND - ND NA [19] *Nucleotide numbers are based on the CFTR reference mRNA sequence, NM_000492.3. Login to comment