ABCMdb

ABCC7 p.Asn287Lys

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Publications

PMID: 15905293 [PubMed] Wu CC et al: "Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens."

No. Sentence Comment

39 However, no classic CF symptoms were identified in any of Table I. CFTR genotypes and clinical information in Taiwanese CBAVD patients PID Genotype IVS8 T n, (TG)n M470V Kidney Seminal vesicles Semen analyses pH Fructose Both alleles identified 1 10 IVS8-5T/IVS8-5T (TG)12 5T/(TG)12 5T V/V N BHy 2 34 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V N BA 6.5 Neg 3 38 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V N RA þ LHy 6 Neg 4 42 IVS8-5T/IVS8-5T (TG)13 5T/(TG)13 5T M/M 5 49 IVS8-5T/IVS8-5T (TG)12 5T/(TG)12 5T V/V 8 Pos 6 50 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V 7 60 IVS8-5T/IVS8-5T (TG)12 5T/(TG)13 5T M/V One allele identified 8 18 N287K/? Login to comment
6 RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients. Login to comment
7 p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel. Login to comment
109 T) in the first ATP-binding fold, p.N287K (993C . Login to comment
114 The p.N287K mutation which changes a non-charged amino acid asparagine to a highly positively charged lysine in the hydrophobic transmembrane span is predicted to cause some structural/functional effect. Login to comment
158 G (p.N287K). Login to comment

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
135 The mutation N287K has been reported once, in a patient with CBAVD from Taiwan [12]. Login to comment