ABCMdb

ABCC7 p.His139Leu

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Publications

PMID: 10605524 [PubMed] Banjar H et al: "Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia."

No. Sentence Comment

4 Pancreatic insuf® ciency (PI) was found in the following mutations: 1548delG in exon 10 (15%) which occurred mainly in native Saudi patients in the central province; 3120 1 1G ® A in intron 16 (10%) and H139L in exon 4 (7%), found mainly in native Saudis from the eastern province; D F508 mutation (13%) which occurred mainly in expatriates of Middle Eastern origin from different provinces; L117X in exon 19 (2%); G115X in exon 4 (2%); 7111 1G ® A in intron 5 (2%); N 1303K in exon 21(2%) and 425del42 in exon 4 (1%); I1234V in exon 19 (13%) with a predominance of nasal polyps and a variable degree of PI and lung disease; R553X in exon 11 (1%), with electrolyte imbalance; and S549R in 11 (2%) with pancreatic suf® ciency and minimal pulmonary disease. Login to comment
29 of families/ Total % Position Genotype a group Prov alleles Frequency Phenotype Exon 4 425del42 1 Sa W 1 1 PI, PU, EL Exon 4 G115X 1 Sa W 2 2 PI, PU Exon 4 H139L 2 Sa E 4 5 PI, PU 1 Sa W 2 2 3 Total 6 Total 7 Total Intron 5 7111 1G ® A 1 Sa S 2 2 PI, PU Exon 10 1548delG/1548del G 4/1/1 Sa C/N/S 8/2/2 13 1548del G/N1303K* 1 Sa E 1 1 1548del G/? Login to comment
40 CFTR mutations identi® ed 4± 11 Severe pancreatic insuf® ciency and lung disease were found in the following CFTR mutations: 1548delG was found in eight families (15% of total alleles), all native Saudis, four families from Central Province; D F508 was found in ® ve families (10%), three of non-Saudi origin from different provinces; 3120 1 1G ® A was found in seven families (9%), three being native Saudi from Eastern Province; H139L was found in three (7%) native Saudi families mainly from Eastern Province; N1303K occurred in two (2%) families and G115X in one family, 425del42, L1177X and 711 1 1G ® A were each found in one family. Login to comment
50 The most common Saudi mutations are 1548delG, which constitutes 15% of the total alleles, and I1234V (13%), coming mainly from the Central Province, while 1G ® A (10%) and H139L (7%) were mainly from Eastern Province. Login to comment

PMID: 10834512 [PubMed] Kambouris M et al: "Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations."

No. Sentence Comment

5 The comparative frequencies of the most common mutations are: 1548delG> I123V DF508 3120 + 1G ® A > H139L. Login to comment
64 CFTR exons 4, 10, 11 from 100 normal individuals (200 chromosomes) were screened to evaluate whether the novel missense mutations found in these exons (H139L in exon 4 and F533L in exon 11) were neutral polymorphisms rather than pathogenic mutations. Login to comment
65 Neither the H139L (exon 4) nor the F533L (exon 11) mutations were detected among the normal individuals suggesting that they indeed represent pathogenic sequence changes. Login to comment
81 The last of the common Arab mutations (H139L) is a novel missense mutation that has not been seen in any other ethnic group. Login to comment
88 Two mutations resulted in amino acid substitutions (H139L and F533L). Login to comment
103 Two of the six ``common Arab'' mutations, namely 1548delG and H139L have not been observed in any Caucasian chromosomes, suggesting that they are derived from the native Arab population. Login to comment
109 1 (private mutation) 475G ® T G115X ± protein truncation 1 2 1a [I1234V] 1 Total: 2 2.5% 536C ® T A141D 1 2 (private mutation) 548A ® T H139L 3 6 1a [S549R] 1 Total: 4 6% Exon 5 711 + 1G ® A Splice site 1 2 1a [?] Login to comment
114 1 (private mutation) 1779T ® G S549R 1 2 1a [H139L] 1 Total: 2 2.5% 1789C ® T R553X ± protein truncation 1a [3120 + 1G ® A] 1 (private mutation) 1811 + 2T ® C Splice site 1a [1548delG] 1 (private mutation) Exon 16 3120 + 1G ® A Splice site 5 10 1a [R533X] 1 1a [N1303K] 1 1a [?] Login to comment
117 aa amino acids CFTR position Mutation Consequence Exon 4 425del42 In-frame 42 bp deletion [426-467] that predicts the removal of 14 aa [99-112] from the CFTR protein and a Gln ® His substitution at aa residue 98 [deletion point] 475G ® T [G115X] G ® T transversion at nucleotide 475 that results in Glu ® Stop codon at aa 115 548A ® T[H139L] A ® T transition at nucleotide 548 that results in a His ® Leu substitution at aa 139 Exon 5 711 + 1G ® A G ® A transition at nucleotide 711 + 1 causing a splice site defect Exon 10 1548delG Deletion of a ``G'' at nucleotide1548 which predicts a frameshift mutation that alters the aa sequence starting at residue 473 and results in translation termination at residue 526 Exon 11 1729T ® C [F533L] T ® C transition at nucleotide 1729 that results in a Phe ® Leu at aa 533 1811 + 2T ® C T ® C transversion at nucleotide 1811 + 2 causing a splice site defect Exon 19 3361A ® T [L1177X] A ® T transition at nucleotide 3361 that results in a Lys ® Stop codon at aa 1177 Fig. 1 MDE heteroduplex analysis and sequencing of amplicons containing novel CFTR mutations identi®ed in Arabs. Login to comment
125 Arab CF patients carry CFTR mutations that have not been reported in other populations (1548delG and H139L). 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

PMID: 20797923 [PubMed] Farra C et al: "Mutational spectrum of cystic fibrosis in the Lebanese population."

No. Sentence Comment

63 In populations from Saudi Arabia, United Arab Emirates, Oman, Qatar, Kuwait, and Jordan the most commonly reported mutations were 1548delG, I123V, F508del, 3120+1G→A, and H139L; while F508del (7.4%-15%) and N1303K (1.5%-14%) are not common, and the mutation W1282X is absent from these populations (Table 2) [1,3,24-26]. Login to comment
66 Interestingly, the two common Arab mutations 1548delG and H139L, which were not found in any Caucasian chromosomes and were suggested to originate from the native Arab population, were absent from our study [15,28]. Login to comment

PMID: 18455968 [PubMed] Farra C et al: "Cystic fibrosis: a new mutation in the Lebanese population."

No. Sentence Comment

46 Recently, a panel of 11 common mutations accounting overall for 70% of all Arab CF chromosomes have been reported : ΔF508del, 3120+1G"A, N1303K, W1282X, G115X, 711+1G"A, S549R, I1234V, 1548delG , H139L and 4010del4 [9]. Login to comment