ABCMdb

ABCC7 p.Ala96Glu

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Publications

PMID: 11379874 [PubMed] Le Marechal C et al: "Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling."

No. Sentence Comment

114 At 56°C, the profiles of ∆F508 and M470V are identical 295 Table 2 Novel nucleotide changes identified in the CFTR gene and detected by D-HPLC Exon/ intron Mutant name Nucleic acid change Amino acid change Effect on amino acid sequence Patient 1 185+1 G to T G to T at 185+1 Splicing CF patient 2 186 - 13 C to G C to G at 186-13 Silent CF patient 2 211 Del G Deletion of G at 211 Frameshift CF patient 2 237 Ins A Insertion A at 237 Frameshift CF patient 2 296+2 T to C 296+2 T to C Splicing CF patient 3 W 57 X2 G to A at 303 Trp to Stop at 57 (TGG to TGA) Nonsense CF patient 3 306 InsA Insertion of A at 306 Frameshift CF patient 3 306 Ins C Insertion of C at 306 Frameshift CF patient 3 W 79 X G to A at 368 Trp to Stop at 79 (TGG to TAG) Nonsense CF patient 4 A 96 E C to A at 419 Ala to Glu at 96 (GCA to GAA) Missense CF patient 4 L 127 X T to G at 512 Nonsense CF patient 4 541 Del CTCC Deletion of CTCC at 541 Leu to Stop at 127 (TTA to TGA) Frameshift CF patient 5 L 165 S T to C at 626 Leu to Ser at 165 (TTA to TCA) Missense CF patient 5 R 170 C C to T at 640 Arg to Cys at 170 (CGT to TGT) Missense Control 6a L 206 F G to T at 750 Leu to Phe at 206 (TTG to TTT) Missense CF patient 6a A 209 S G to T at 757 Ala to Ser at 209 (GCA toTCA) Missense CF patient 6a A 209 A A to G at 759 Ala to Ala at 209 (GCA to GCG) Silent CF patient 6a C 225 X T to A at 807 Cys to Stop at 225 (TGT to TGA) Nonsense CF patient 6a G 241 R G to A at 852 Gly to Arg at 241 (GGG to AGG) Missense CF patient 6b 905 Del G Deletion of Gat 905 Frameshift CF patient 7 A 309 A C to G at 1059 Ala to Ala at 309 (GCC to GCG) Silent Control 7 V 322 M G to A at 1096 Val to Met at 322 (GTG to ATG) Silent CF patient 7 R 334 Q G to A at 1133 Arg to Gln at 334 (CGG toCAG) Missense Control 7 Q 353 H A to C at 1191 Gln to His at 353 (CAA to CAC) Missense CF patient 7 1248+1 G to C G to C at 1248+1 Splicing CF patient 8 L 383 L G to A at 1281 Leu to Leu at 383 (TTG to TTA) Silent Control 8 W 401 X G to A at 1334 Trp to Stop at 401 (TGG to TAG) Nonsense CF patient 8 E 403 D G to C at 1341 Glu to Asp at 403 (GAG to CAG) Missense CF patient 9 1367 Del C Frameshift CF patient 10 1525 - 2 A to G Deletion of C at 1367 Splicing CF patient 10 G 480 G T to C at 1572 Gly to Gly at 480 (GGT to GGC) Silent CF patient 10 1576 Ins T Insertion of T at 1576 Frameshift CF patient 10 H 484 R A to G at 1583 His to Arg at 484 (CAC to CGC) Missense Neonatal hypertrypsinaemia 10 I506 V A to G at 1648 Ileto Val at 506 (ATC to GTC) Silent Control 11 1717 - 19 T to C T to C at 1717-19 Splicing ? Login to comment

PMID: 12007216 [PubMed] Bobadilla JL et al: "Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening."

No. Sentence Comment

112 Jewish 1) 405+1G®A (48.0%) 3) W1282X (17.0%) - - 4 23 Kerem et al. [1995] (Tunisia) 2) DF508 (31.0%) 4) 3849+10KbC®T (4.0%) Jewish 1) G85E 4) G542X - - 6 10 Kerem et al. [1995] (Turkey) 2) DF508 5) 3849+10KbC®T 3) W1282X 6) W1089X Jewish (Yemen) None - - 0 5 Kerem et al. [1995] Lebanon 1) DF508 (35.0%) 6) 4096-28G®A (2.5%) - - 9 40 Desgeorges et al. [1997] 2) W1282X (20.0%) 7) 2789+5G®A (2.5%) 3) 4010del4 (10.0%) 8) M952I (2.5%) 4) N1303K (10.0%) 9) E672del (2.5%) 5) S4X (5.0%) Reunion ∆F508 (52.0%) 1717-1G→A (0.7%) 90.4 81.7 9 138 Cartault et al. [1996] Island Y122X (24.0%) G542X (0.7%) 3120+1G→A (8.0%) A309G (0.7%) A455E (2.2%) 2789+5G→A (0.7%) G551D (1.4%) Saudi North: 3) H139L - - North 1 49 families El-Harith et al. [1997]; Arabia 1) 1548delG 4) L1177X Central 3 Kambouris et al. [1997]; Central: 5) DF508 South 4 Banjar et al. [1999] 1)I1234V 6) 3120+1G®A West 9 2)1548delG 7) 425del42 East 6 3)DF508 8) R553X South: 9) N1303K 1) I1234V East: 2) 1548delG 1) 3120+1G®A 3) 711+1G®T 2) H139L 4) 3120+1G®A 3) 1548delG West: 4) DF508 1) I1234V 5) S549R 2) G115X 6) N1303K Tunisia ∆F508 (17.6%) G85E (2.6%) 58.7 34.5 11 78 Messaoud et al. [1996] G542X (8.9%) W1282X (2.6%) 711+1G→T (7.7%) Y122X (1.3%) N1303K (6.4%) T665S (1.3%) 2766del8NT (6.4%) R47W+D1270N (1.3%) R1066C (2.6%) Turkeye ∆F508 (24.5%) 1066L (1.3%) 80.6 65.0 36 1067/670 Yilmaz et al. [1995]; Estivill et al. 1677delTA (4.1%) E822X (1.3%) [1997]; Onay et al. [1998]; 2789+5G→A (3.9%) 2183+5G→A+2184insA (1.3%) Macek et al. [2002] 2181delA (3.8%) D110H (0.8%) R347H (3.6%) P1013L (0.8%) N1303K (2.9%) 3172delAC (0.8%) 621+1G→T (2.6%) 1259insA (0.8%) G542X (2.6%) M1028I (0.8%) TABLE 1. Continued. Estimated Projected detection of Number of Number of Country/ allele two CFTR mutations chromosomes Region Mutation array detectiona mutationsb includedc (max/min)d Reference WORLDWIDEANALYSISOFCFTRMUTATIONS587 E92K (2.6%) 4005+1G→A (0.7%) A96E (2.6%) W1282X (0.7%) M152V (2.6%) I148T (0.6%) 2183AA→G (2.5%) R1162X (0.6%) 296+9A→T (1.6%) D1152H (0.6%) 2043delG (1.4%) W1098X (0.6%) E92X (1.4%) E831X (0.6%) K68N (1.4%) W496X (0.6%) G85E (1.3%) F1052V (0.5%) R1158X (1.3%) L571S (0.5%) United Arab S549R (61.5%) ∆F508 (26.9%) 88.4 78.1 2 86/52 Frossard et al. [1988]; Emirates Frossard et al. [1999] North/Central/South Americas Argentina ∆F508 (58.6%) N1303K (1.8%) 69.1 47.7 5 326/228 CFGAC [1994]; Chertkoff et al. W1282X (3.9%) 1717-1G→A (0.9%) [1997] G542X (3.9%) Brazilf ∆F508 (47.7%) W1282X (1.3%) 66.8 44.6 10 820/500 CFGAC [1994]; Cabello et al. (total) G542X (7.2%) G85E (1.3%) [1999]; Raskin et al. [1999]; R1162X (2.5%) R553X (0.7%) Bernardino et al. [2000] R334W (2.5%) L206W (0.6%) N1303K (2.4%) 2347delG (0.6%) South East: >∆F508, G542X South: >N1303K Brazil ∆F508 (31.7%) N1303K (2.5%) 42.5 18.1 3 120 Parizotto and Bertuzzo [1997] (Sao Paulo) G542X (8.3%) Canada ∆F508 (59.0%) G542X (0.5%) 98.5 97.0 13 381/200 Rozen et al. [1992]; (Lac St. Jean) 621+1G→T (24.3%) N1303K (0.5%) De Braekeleer et al. [1998] A445E (8.2%) Q890X (0.5%) Y1092X (1.2%) S489X (0.5) 711+1G→T (1.0%) R117C (0.5%) I148T (1.0%) R1158 (0.5%) G85E (0.8%) Canada ∆F508 (71.4%) ∆I507 (1.3%) 90.9 82.6 7 77 Rozen et al. [1992] (Quebec City) 711+1G→T (9.1%) Y1092X (1.3%) 621+1G→T (5.2%) N1303K (1.3%) A455E (1.3%) Canada ∆F508 (70.9%) W1282X (0.9%) 82.0 67.2 10 632 Kristidis et al. [1992] (Toronto) G551D (3.1%) R117H (0.9%) G542X (2.2%) 1717-1G→A (0.6%) 621+1G→T (1.3%) R560T (0.6%) N1303K (0.9%) ∆I507 (0.6%) Chile ∆F508 (29.2%) R553X (4.2%) 33.4 11.2 2 72 Rios et al. [1994] Columbia 1) DF508 (35.4%) 3) N1303K (2.1%) - - 4 48 Restrepo et al. [2000] 2) G542X (6.3%) 4) W1282X (2.1%) Ecuador 1) DF508 (25%) - - 1 20 Paz-y-Mino et al. [1999] (Continued) BOBADILLAETAL. Login to comment