ABCMdb

ABCC7 p.Leu435Val

None has been submitted yet.

Publications

PMID: 20233062 [PubMed] van de Vosse E et al: "Distribution of CFTR variations in an Indonesian enteric fever cohort."

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