ABCMdb

PMID: 20233062

van de Vosse E, de Visser AW, Al-Attar S, Vossen R, Ali S, van Dissel JT
Distribution of CFTR variations in an Indonesian enteric fever cohort.
Clin Infect Dis. 2010 May 1;50(9):1231-7., 2010-05-01 [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Ile556Val ABCC7 p.Gln1352His ABCC7 p.Asn287Lys ABCC7 p.Leu435Val We identified 12 variants in, or adjacent to, the exons: 1 novel variant (L435V), 3 known mutations (N287K, I556V, Q1352H), and 8 known polymorphisms. Login to comment 72 ABCC7 p.Ile556Val ABCC7 p.Asn287Lys ABCC7 p.Leu435Val Variations Identified Once in 25 Sequenced Samples Variation SNP a Observed frequency Reported frequency of minor allele -8G1C in exon 1, 5`UTR rs1800501 1 in 50 (2%) 4.4% in Chinese, a 3.4% in Japanese, a 0%-4.5% in Europeans, a 0%-2.2% in Africans a 861C1G in exon 6b, leading to N287K NA 1 in 50 (2%) Found once in a Taiwanese CBAVD patient [12] 1303C1G in exon 9, leading to L435V NA 1 in 50 (2%) Novel variation, no data available 1666A1G in exon 11, leading to I556V NA 1 in 50 (2%) 2.6% in Koreans [11], 5.0% in Singapore Chinese [21] 3870A1G in exon 20, silent rs1800130 1 in 50 (2%) 0% in Chinese and in Japanese, a 0%-4.2% in Europeans, a 11.9%-21.2% in Africans a NOTE. CBAVD, congenital bilateral absence of the vas deferens; NA, not available; SNP, single-nucleotide polymorphism. Login to comment 97 ABCC7 p.Val470Met ABCC7 p.Gln1352His (%) 2-sided P value Of case patients (n p 116) Of control subjects (n p 322) IVS6a GATTn repeat at 9 nt before exon 6b; rs3034763 .40b GATT7 128 (57.1) 379 (60.4) GATT6 96 (42.9) 248 (39.5) GATT4 0 1 (0.2) IVS8 TGn repeat at 16 nt before exon 9; rs4646205 .17 c TG10 7 (3.0) 7 (1.2) TG11 110 (47.8) 298 (50.0) TG12 113 (49.1) 285 (47.8) TG13 0 (0) 5 (0.8) TG15 0 (0) 1 (0.2) IVS8 Tn repeat at 6 nt before exon 9; rs1805177 NDd T5 1 (0.4) 8 (1.3) T7 222 (96.5) 581 (97.5) T9 7 (3.0) 7 (1.2) 1408G1A in exon 10 leading to V470M; rs213950 .36 G 126 (56.3) 380 (59.7) A 98 (43.8) 256 (40.3) 2562T1G in exon 14a, silent; rs1042077 .78 T 138 (60.0) 392 (61.1) G 92 (40.0) 250 (38.9) 4056G1C in exon 22, leading to Q1352H; NA .56 G 220 (94.8) 602 (93.8) C 12 (5.2) 40 (6.2) 4389G1A in exon 24, silent; rs1800136 ND d G 220 (94.8) 617 (96.1) A 12 (5.2) 25 (3.9) NOTE. NA, not available; ND, not determined; SNP, single-nucleotide polymorphism. Login to comment 107 ABCC7 p.Val470Met ABCC7 p.Gln1352His The 7 polymorphisms that were detected more frequently were a IVS6a GATT repeat polymorphism 9 base pairs (bp) upstream of exon 6b, a variation in the number of TG repeats 16 bp upstream of exon 9, an adjacent variation in the number of Ts 6 bp upstream of exon 9, the common 1408G1A coding single-nucleotide polymorphism (SNP) (leading to V470M), the silent SNP 2562T1G, the 4056G1C mutation (leading to Q1352H), and the silent SNP 4389G1A (Table 3). Login to comment 116 ABCC7 p.Val470Met ABCC7 p.Gln1352His (%) 2-sided P value Of case patients (n p 116) Of control subjects (n p 322) IVS6a GATTn .59a GATT6GATT6 23 (20.5) 51 (16.2) GATT6GATT7 50 (44.6) 146 (46.5) GATT7GATT7 39 (34.8) 116 (36.9) GATT4GATT7 0 (0) 1 (0.3) IVS8 TGn .04b TG11TG11 31 (27.0) 72 (24.2) TG11TG12 45 (39.1) 150 (50.3) TG12TG12 32 (27.8) 64 (21.5) Other 7 (6.1) 12 (4.0) IVS8 Tn .45b T7T7 107 (93.0) 283 (95.0) T7T9 7 (6.1) 7 (2.3) Other 1 (0.9) 8 (2.7) 1408G1A (V470M) .55 GG 39 (34.8) 118 (37.1) GA 48 (42.9) 144 (45.3) AA 25 (22.3) 56 (17.6) 2562T1G .06 b TT 49 (42.6) 124 (38.6) TG 40 (34.8) 144 (44.9) GG 26 (22.6) 53 (16.5) 4056G1C (Q1352H) .44b GG 105 (90.5) 282 (87.9) GC 10 (8.6) 38 (11.8) CC 1 (0.9) 1 (0.3) 4389G1A .39 GG 104 (89.7) 296 (92.2) GA 12 (10.3) 25 (7.8) AA 0 (0) 0 (0) a GATT4GATT7 genotype arbitrarily grouped with GATT7GATT7. Login to comment 119 ABCC7 p.Gln1352His Bar graph comparing individuals who have у1 of the CFTR expression-affecting variations (the mutation Q1352H, the IVS8 TGn repeat alleles TG13 or TG15, the IVS8 Tn repeat allele T5, or 1 of the common genotypes [IVS8 TG11TG12 or 2562TG] that we found to protect from enteric fever) with individuals who have none of these variations. Login to comment 125 ABCC7 p.Gln1352His Several CFTR variations have been proven to affect CFTR protein function and expression directly (Q1352H) or are known to affect CFTR messenger RNA (mRNA) splicing (IVS8 TGn alleles TG13 and TG15 and the Tn repeat allele T5) and subsequent protein expression. Login to comment 126 ABCC7 p.Gln1352His In 63 case patients and 218 control subjects, у1 of the following variations were present: the Q1352H mutation, the IVS8 T5 allele, the IVS8 TG13 or TG15 allele, the most common TGn repeat genotype TG11TG12, or the most common 2562T1G genotype TG. Login to comment 134 ABCC7 p.Ile556Val ABCC7 p.Asn287Lys ABCC7 p.Leu435Val Five of these were identified only once and were therefore not further analyzed in the full cohort, 2 of which, N287K and I556V, had been reported before as mutations and 1 of which, L435V, was identified for the first time. Login to comment 135 ABCC7 p.Asn287Lys The mutation N287K has been reported once, in a patient with CBAVD from Taiwan [12]. Login to comment 136 ABCC7 p.Ile556Val I556V had been identified in Korean individuals and molecularly proven to be defective [11]. Login to comment 137 ABCC7 p.Leu435Val The novel variation L435V may be either a polymorphism or a mutation; experimental data are required to determine the functional effect of this variation. Login to comment 145 ABCC7 p.Gln1352His Another example is the mutation in exon 22 that leads to the amino acid change Q1352H; this variation was identified in Korean, Japanese, and Singapore Chinese individuals [11, 28, 21] and was proven molecularly to be defective, and expression was reduced by 75% [11]. Login to comment 146 ABCC7 p.Gln1352His In Korean individuals, Q1352H was associated with pancreatitis and bronchiectasis [11], whereas in Japan it was found in several patients with CBAVD [28]. Login to comment