ABCMdb

ABCC7 p.Val1397Glu

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Publications

PMID: 12084728 [PubMed] Milewski MI et al: "Aggregation of misfolded proteins can be a selective process dependent upon peptide composition."

No. Sentence Comment

85 The only reported CF-causing mutation in the ag region was a substitution of valine at codon 1397 by glutamic acid (V1397E) (29). Login to comment
108 B-E, the effect of different mutations within the ag region, including ⌬ag (B), V1397E (C), T1396A (D), and double mutation H1402A,R1403A (E) on the aggregation of C terminus of CFTR fused to GFP (shown in green) in transiently transfected human airway epithelial (IB3-1) cells. Login to comment

PMID: 16132229 [PubMed] Eudes R et al: "Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations."

No. Sentence Comment

330 Hum. Genet. 93: 67-73 34 Jones C. T., McIntosh I., Keston M., Ferguson A. and Brock D. J. (1992) Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum. Mol. Genet. 1: 11-17 35 Petreska L., Koceva S., Gordova-Muratovska A., Nestorov R. and Efremov G. D. (1994) Identification of two new mutations (711 +3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin. Login to comment

PMID: 9788722 [PubMed] Petreska L et al: "Molecular basis of cystic fibrosis in the Republic of Macedonia."

No. Sentence Comment

68 Two of them were found by SSCP: 711+3A +G mutation, found in two Albanian chromosomes associated with haplotype A, and V1397E mutation found in a Macedonian chromosome. Login to comment
71 C (19Y V1397E (exon 23) (0.6) MK (0.9%) SSCP ND (31)' Total 97 (58.4) a MK, Macedonian; AL, Albanian; novel mutation identified during this study 205 al. Table . Login to comment
72 Clinical feaiures of the CF patients from Macedonia Genotype Number of CF patients (%) PI PS Shwachman scorea Age of onset GI- (mmljl) NDb AF508/AF508 AF508/G542X AF508/N1303K AF508/711+3A-.G AF508/711+W+G AF508/621+lG+T AF508/621+1G+T AF508/1811+1G-*C AF508/457TAT-*G AF508/3849G+A G542X/3849G+A N1303K/ND V1397E/ND AF508/ND NDiND Total 26 (31.3) 5 (6.0) 2 (2.4) 2 (2.4) 2 (2.4) 1 (1.2) 1 (1.2) 1 (1.2) 1 (1.2) 1 (1.2) 1 (1.2) 13 (15.7) 27 (32.5) 83 (100.0) 26 5 2 1 1 1 1 1 1 1 1 1 7 4 1 15 7 63 13 25-85 30-60 38 84 82 35 78 80 83 50 82 83 I 30-60 20-90 ~~~~~ 1-6 months 1 month 3 months 1 month 1 month 2 months 2.5 years 2 months 2 months 2 months 1 month 6 years 3 weeks Variable Vanable ~ ~ ~~~ 80-210 116-166 180-200 80 120 170 156 240 150 98 190 65 65 65-2300 2 65-130 (ps) 58-230 (PO 5 65-130 (PS) 7 a Shown is the most recent Shwachman score. Login to comment
80 In two families the genotypes were N1303/unknownand V1397E/unknown. Login to comment
101 The mutations 711 +3A+G, 1811+IG-tC and V1397E were described for the first time in the literature, and to our knowledge they have not been found outside Macedonia. Login to comment

PMID: 9920908 [PubMed] Prince LS et al: "Efficient endocytosis of the cystic fibrosis transmembrane conductance regulator requires a tyrosine-based signal."

No. Sentence Comment

196 For comparison, only one mutation in the carboxyl-terminal tail has been reported to result in CF, V1397E. Login to comment

PMID: 7524913 [PubMed] Petreska L et al: "Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin."

No. Sentence Comment

5 Here we report two new nucleotide substitutions of the CFTR gene, one in intron 5 (711+3A -G), and one in exon 23 (V1397E), named accordingly to the nucleotide assignment of the CFGAC (Personal comm., 1990). Login to comment
17 V1397E. Login to comment
26 Identification of 711+3A-G (A) and V1397E (B) mutations by direct sequencing of DNA. Login to comment