ABCC7 p.Asp44Gly
| ClinVar: |
c.131A>G
,
p.Asp44Gly
?
, not provided
|
| CF databases: |
c.131A>G
,
p.Asp44Gly
(CFTR1)
D
, This mutation was found once among 31 [delta]F508, 63 Cf non-[delta]F508 and 37 normal chromosomes analyzed.
|
| Predicted by SNAP2: | A: D (91%), C: D (91%), E: D (95%), F: D (95%), G: D (59%), H: D (91%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (85%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (85%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Spectrum of CFTR mutations in cystic fibrosis and ... Hum Mutat. 2000;16(2):143-56. Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]
Abstract [show]
We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7, 420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67.18%; range 61-80), G542X (2.86%; range 1-6.7%), N1303K (2.10%; range 0.75-4.6%), and 1717-1G>A (1.31%; range 0-2.8%). Only 11 mutations had relative frequencies >0. 4%, 140 mutations were found on a small number of CF alleles (from 29 to two), and 154 were unique. These data show a clear geographical and/or ethnic variation in the distribution of the most common CF mutations. This spectrum of CF mutations, the largest ever reported in one country, has generated 481 different genotypes. We also investigated a cohort of 800 French men with congenital bilateral absence of the vas deferens (CBAVD) and identified a total of 137 different CFTR mutations. Screening for the most common CF defects in addition to assessment for IVS8-5T allowed us to detect two mutations in 47.63% and one in 24.63% of CBAVD patients. In a subset of 327 CBAVD men who were more extensively investigated through the scanning of coding/flanking sequences, 516 of 654 (78. 90%) alleles were identified, with 15.90% and 70.95% of patients carrying one or two mutations, respectively, and only 13.15% without any detectable CFTR abnormality. The distribution of genotypes, classified according to the expected effect of their mutations on CFTR protein, clearly differed between both populations. CF patients had two severe mutations (87.77%) or one severe and one mild/variable mutation (11.33%), whereas CBAVD men had either a severe and a mild/variable (87.89%) or two mild/variable (11.57%) mutations.
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No. Sentence Comment
108 g D44G, 300delA, W57X, 405+1G>A, D110H, E116K, 541del4, 542del7, L137R, 621+2T>G, I175V, H199R, H199Y, C225X, V232D, Q290X, E292X, G314V, T338I, 1221delCT, W401X, Q452P, I502T, 1716+2T>C, G544S, R560S, A561E, V562I, Y569D, 1898+3A>G, 1898+5G>A, G628R(G>A), 2143delT, G673X, R851X, Q890X, S977F, 3129del4, 3154delG, 3271+1G>A, G1061R, R1066L, R1070W, 3601-17T>C, S1196X, 3732delA, G1249R, 3898insC, 4374+1G>A, del25kb.
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ABCC7 p.Asp44Gly 10923036:108:2
status: NEW[hide] Molecular characterization of cystic fibrosis: 16 ... Genomics. 1992 Jul;13(3):770-6. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Genomics. 1992 Jul;13(3):770-6., [PMID:1379210]
Abstract [show]
The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding regions and adjacent cystic fibrosis transmembrane conductance regulator (CFTR) gene sequences. The nucleotide substitutions detected included 16 novel mutations, 11 previously described defects, and 11 nucleotide sequence polymorphisms. Among the novel mutations, 6 were of the missense type, 4 were nonsense mutations, 4 were frameshift defects, and 2 affected mRNA splicing. The mutations involved all the CFTR domains, including the R domain. Of the 61 non-delta F508 CF chromosomes studied, mutations were found on 36 (59%), raising the proportion of CF alleles characterized in our patient cohort to 88%. Given the efficacy of the screening method used, the remaining uncharacterized mutations probably lie in DNA sequences outside the regions studied, e.g., upstream-promoter sequences, the large introns, or putative regulatory regions. Our results further document the highly heterogeneous nature of CF mutations and provide the information required for DNA-based genetic testing.
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No. Sentence Comment
66 In TABLE 1 Oligonucleotides Used for Amplification and DGGE Analysis of CFTR Gene Exons Annealing Amplified Denaturant Exon PCR primers, 5` + 3 temperature ("C) product (bp) 1 2 3 4 5 6a 6b 7 8 9 10 11 12 13 14a 14b 15 16 17a 17b 18 19 20 21 22 23 24 CGTAGTGGGTGGAGAAAGC (CFl) [55 GC] CCAAAGCCAACCCATACACA (GCCFl) CCAAATCAAGTGAATATCTG (CF2) [40 GC] TAATAATATGAATTTCTCTCTT (GCCFB) TTGGATATACTTGTGTGAAT (CF3) [40 GC] TTCGTAGTCTTTTCATAATC (GCCF3) TGTGTTGAAATTCTCAGGGT (CF4) [40 GC] CAGAATATATGTGCCATGGG (GCCF4) [35GC] TATTTGTATTTTGTTTGTTGA (GCCF5) CTTTCCAGTTGTATAATTTA (CF5) [50 GC] TGGAAGATACAATGACACCTG (GCCFGa) GCATAGAGCAGTCCTGGTTT (CF6a) TATGACTTAAAACCTTGAGC (CFGb) [40 GCIAAGGACAGAATTACTAACAA (GCCFGb) CATCCTGAATTTTATTGTTA (CF7) [50 GC] ATCATAGTATATAATGCAGC (GCCF7) [50 GC] TAAAGTAGATGTAATAATGC (GCCFS) ATTTTATTCGCCATTAGGAT (CFS) TGAAAATATCTGACAAACTC (CF9) GGGGAATTATTTGAGAAAGC (CF9i) [40 GC] CCTTCCAGCACTACAAACTA (GCCFS) TCCTGAGCGTGATTTGATAA (CFlO) [35 GCIATTTGGGTAGTGTGAAGGG (GCCFlO) [35 GC] CAGATTGAGCATACTAAAAGTG (GCCFll) CATTTACAGCAAATGCTTGCTAG (CFll) ATGACCAGGAAATAGAGAGG (CF12) [30 GC] GCTACATTCTGCCATACCAA (GCCF12) [35 GC] TATATCTTAAAGCTGTGTCTGT (GCCF1311) TCCCTGCTCAGAATCTGGTA (CF1312) [50 GC] CCCTTACAAATGAATGGCAT (GCCF1321) TATCCAGTTCAGTCAAGTTT (CF1322) [50 CC] CCCTTACAAATGAATGGCAT (GCCF1321) TACATATTGCATTCTACTCA (CF1323) CAAAATGCTAAAATACGAGACA (CF13-3) TCCCTGCTCAGAATCTGGTA (CF1312) [35 GC] GGTGGCATGAAACTGTACTG (GCCF14a) TGTATACATCCCCAAACTATCT (CF14a) AATAGGTGAAGATGTTAGAA (CF14b) [40 GC] ATAAAACACAATCTACACAA (GCCF14b) TCAGTAAGTAACTTTGGCTGC (CF15) [40 GC] CCTATTGATGGTGGATCAGC (GCCF15) [25 GC] TCTGAATGCGTCTACTGTGA (GCCF16) GCAATAGACAGGACTTCAAC (CF16) [35 GC] TGCAATGTGAAAATGTTTAC (GCCF17a) CTCTTATAGCTTTTTTACAA (CF17a) [40 GC] TTTGTGTTTATGTTATTTGC (GCCFl7b) TGCAGCATTTTATTCATTGA (CF17b) ATCATTTCTATTCTCATTTG (CFl7bi) TAGGAGAAGTGTGAATAAAG (CF18) [40 GC] ATACTTTGTTACTTGTCTGA (GCCF18) GTGAAATTGTCTGCCATTCT (CF19) [45 GC] AGGCTACTGGGATTCACTTA (GCCF19) [35 CC] TATGTCACAGAAGTGATCCC (GCCFZO) TGAGTACAAGTATCAAATAGC (CF20) TGAAATATTTTACAATACAATAAGGG (CF21) [40 CC] GCCATTTGTGTTGGTATGAG (GCCF21) TTTTAGAATGTCAACTGCTT (CF22) [50 GC] ATGATTCTGTTCCCACTGTG (GCCF22) [40 GC] CTGTTCTGTGATATTATGTG (GCCF23) GTTATCAAGAATTACAAGGG (CF23) TTTCTGTCCCTGCTCTGGTC (CF24) [40 GC] TCCCACGAGCTCCAATTCCA (GCCF24) 55 451 range (%) 40-80 50 240 lo-60 50 323 lo-60 55 369 30-80 45 235 lo-60 55 345 50 301 40-90 and lo-60 lo-60 50 365 lo-60 45 302 lo-60 55 375 lo-60 55 298 lo-60 55 336 lo-60 50 224 lo-60 55 296 lo-60 55 516 25-75 50 318 40-90 50 454 lo-60 55 545 O-60 55 276 50 168 lo-60 lo-60 55 390 lo-60 55 323 lo-60 45 283 lo-60 50 382 lo-60 50 266 30-80 48 277 lo-60 55 55 407 302 30-80 lo-60 55 272 55 340 lo-60 and 30-80 30-80 50 242 lo-60 60 362 30-80 Running time (h) 7 3 3 5 3 5 5 4 6 3 5 5 4 3 3 2 4 4 2 6 5 3 5 3 4 4 3 3 5 5 5 5 5 3 4 TABLE 2 Mutations Identified in this Study 773 Name Amino acid change Nucleotide change Exon - D44G 241delAT 574delA G1`78R 711 + 1 G -.
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ABCC7 p.Asp44Gly 1379210:66:2936
status: NEW89 Analysis of the Remaining Exons Other mutations or candidate mutations were detected outside the regions cited above and included D44G, 241delAT (exon 2) (Fig. l), G178R, 711 + 1 G-T (exon 5), W1063X, R1066C, Y1092X (exon 17b) (Fig. 2), and 4374 + 1 G-A (intron 23).
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ABCC7 p.Asp44Gly 1379210:89:130
status: NEW