ABCMdb

ABCC7 p.Trp277Arg

ClinVar:	c.830G>A , p.Trp277* D , Pathogenic c.829T>A , p.Trp277Arg ? , not provided
CF databases:	c.829T>A , p.Trp277Arg (CFTR1) D , This mutation, in exon 6b, was detected by SSCA analysis and identified by direct sequencing. The W277R (A>G at 961) mutation was found in one argentinean patient who carries the F508del mutation on the other allele. It was not found on 78 non-F508del CF chromosomes.
Predicted by SNAP2:	A: D (71%), C: D (80%), D: D (95%), E: D (91%), F: D (75%), G: D (91%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (80%), N: D (91%), P: D (95%), Q: D (85%), R: D (91%), S: D (91%), T: D (91%), V: D (85%), Y: D (66%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: D,

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Publications
[hide] Mutational spectrum of cystic fibrosis patients fr... Mol Genet Metab. 2006 Apr;87(4):370-5. Epub 2006 Jan 19. Ramirez AM, Ramos MD, Jimenez J, Ghio A, de Botelli MM, Rezzonico CA, Marques I, Pereyro S, Casals T, de Kremer RD
Mutational spectrum of cystic fibrosis patients from Cordoba province and its zone of influence: implications of molecular diagnosis in Argentina.
Mol Genet Metab. 2006 Apr;87(4):370-5. Epub 2006 Jan 19., [PMID:16423550]

Abstract [show]
Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, making it necessary to establish them in each one. In this study, we present the spectrum and frequency of CFTR gene mutations in CF patients from Cordoba (a province with 3.1 millions inhabitants in the middle of Argentina) and its zone of influence, to offer an accurate genetic testing. The study includes 78 families in which 98 patients fulfilled clinical criteria to CF diagnosis. The strategy for the molecular diagnosis comprised analysis of 21 common mutations, microsatellite haplotypes and the complete CFTR gene analysis using scanning techniques followed by sequencing of the abnormal migration patterns. Our first step led us to the identification of 10 mutations that represented 76% of alleles. Another four mutations (p.R1066C, c.1811 + 1.6 kbA > G, c.711 + 1G > T, and p.G85E) were found based on the microsatellite haplotype-mutation association. Finally, 14 mutations were characterized after the CFTR gene scanning, three of them are not previously described (p.G27R, c.622-2A > G, and p.W277R). In summary, we have identified 27 mutations accounting for 94.23% of CF alleles. This characteristic mutational spectrum highlights the 14 most frequent mutations (>1%) in the Cordoba region.

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No. Sentence Comment
9 Finally, 14 mutations were characterized after the CFTR gene scanning, three of them are not previously described (p.G27R, c.622-2A> G, and p.W277R). Login to comment
73 Among these 13 mutations, we detected three novel CFTR mutations (validation of mutations according to HUGO), two missense changes (p.G27R and p.W277R) and one splice site mutation (c.622-2A > G) (Table 3). Login to comment
79 The p.W277R mutation was identiWed in a patient who carries the p.F508del mutation on the paternal CF allele. Login to comment
85 Haplotype (n D 20) No. of chromosomes (n D 64)a Mutations associated (No. of chromosomes) 23-31 14 p.F508del 17-31 7 p.F508del 17-7 7 p.R1066C (3), p.W277R, c.2789 + 5G > A, c.3120 + 1G > A, c.3849 + 10KbC > T 16-7 6 c.3272-26A > G (2), p.G27R, c.622-2A > G, unknown (2) 16-32 5 p.S589I (2), unknown (3) 16-30 3 IVS8-5T (2), unknown 23-33 2 p.G542X, p.R1283M 23-32 2 p.G542X 23-30 2 p.F508del, p.N1303K 24-31 2 p.N1303K 16-24 2 p.G85E 16-31 3 c.1898 + 1G > A, p.W1089X, unknown 16-46 2 c.1811 + 1.6KbA > G 16-25 1 c.711 + 1G > T 16-33 1 Unknown 16-44 1 c.1898 + 1G > A 16-45 1 p.Y913C 16-47 1 c.4005 + 1G > A 17-30 1 Unknown 23-7 1 [c.3199_3204delATAGTG; p.I148T] Table 2 Frequency of the mutations in the 78 CF Argentinean patients of Córdoba region a IdentiWed novel mutations. Login to comment
107 He is 4 years old, PI, mild lung involvement p.W277R A > G at 961 E.6b Trp > Arg 17-7 SSCA and Seq. Female 5 years old diagnosed at 11 months. Login to comment
113 Missense mutations, p.G27R and p.W277R were identiWed in CF patients with severe phenotype and it may postulate that both changes aVect the CFTR activity. Login to comment
115 Whereas the p.W277R mutation, in the three intracellular loop, may aVect the interaction with the NB1 domain [24]. Login to comment
123 In addition, it is important to denote that in our series the most frequent mutations found were p.F508del, p.N1303K, p.G542X, p.R334W, p.R1066C, and c.2789+5G>A, however, the last two ones were rare in Buenos Aires series (p.R1066C, 0.23%) and others were not found (p.S589I, c.3272-26A>G, c.1898+1G>A, c.711+1G>T, c.3199_ 3204delATAGTG, p.W1089X, p.R1283M, p.Y913C, c.4005+1G>A, c.3120 +1G >A, p.G27R, p.W277R, and c.622-2A>G). Login to comment
105 He is 4 years old, PI, mild lung involvement p.W277R A > G at 961 E.6b Trp > Arg 17-7 SSCA and Seq. Female 5 years old diagnosed at 11 months. Login to comment
111 Missense mutations, p.G27R and p.W277R were identiWed in CF patients with severe phenotype and it may postulate that both changes aVect the CFTR activity. Login to comment
121 In addition, it is important to denote that in our series the most frequent mutations found were p.F508del, p.N1303K, p.G542X, p.R334W, p.R1066C, and c.2789+5G>A, however, the last two ones were rare in Buenos Aires series (p.R1066C, 0.23%) and others were not found (p.S589I, c.3272-26A>G, c.1898+1G>A, c.711+1G>T, c.3199_ 3204delATAGTG, p.W1089X, p.R1283M, p.Y913C, c.4005+1G>A, c.3120 +1G >A, p.G27R, p.W277R, and c.622-2A>G). Login to comment