ABCMdb

ABCC7 p.Leu435Val

Predicted by SNAP2:	A: N (61%), C: N (57%), D: D (75%), E: N (57%), F: N (82%), G: D (66%), H: D (59%), I: N (87%), K: D (66%), M: N (93%), N: D (63%), P: D (71%), Q: D (59%), R: D (66%), S: D (63%), T: D (53%), V: D (53%), W: N (66%), Y: D (53%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Distribution of CFTR variations in an Indonesian e... Clin Infect Dis. 2010 May 1;50(9):1231-7. 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 [PMID:20233062]

Abstract [show]
BACKGROUND: Enteric fever is defined by circulating Salmonella serotype Typhi or Paratyphi in the blood. The first step in developing enteric fever is internalization of salmonellae in the gut epithelium. In in vitro experiments, attachment of S. Typhi to the cystic fibrosis transmembrane conductance regulator (CFTR) on the intestinal mucosa is crucial for bacterial uptake. We recently found a microsatellite polymorphism in the CFTR gene, IVS8CA, to be associated with susceptibility to enteric fever in a case-control study in Indonesia. METHODS: To determine which functional variation in CFTR is associated with susceptibility to enteric fever, we sequenced all 27 exons of the CFTR gene in 25 individuals from Indonesia. Polymorphisms that occurred more than once were genotyped in the full enteric fever cohort of 116 case patients and 322 control subjects. RESULTS: We identified 12 variants in, or adjacent to, the exons: 1 novel variant (L435V), 3 known mutations (N287K, I556V, Q1352H), and 8 known polymorphisms. Variations that occurred more than once were genotyped in the full cohort. The IVS8 TG(11)TG(12) genotype appears to provide some protection from acquiring enteric fever: having this protective genotype or a variation that is known to affect CFTR protein expression provides modest protection from enteric fever (odds ratio, 0.57; 95% confidence interval, 0.37-0.87; P<.01). CONCLUSIONS: The findings demonstrate that a correlation exists between variations in the CFTR gene and protection from enteric fever. The IVS8CA polymorphism that was identified previously may, however, be the principal functional variation causing the difference in susceptibility.

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No. Sentence Comment
8 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 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
134 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
137 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