|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Options for pharmacological correction of CFTR-p.Phe508del (F508del) are being extensively studied but correction of other trafficking mutants that may also benefit from corrector treatment remains largely unknown.We studied correction of the folding mutants CFTR-p.Phe508del, -p.Ala455Glu (A455E) and -p.Asn1303Lys (N1303K) by VX-809 and 18 other correctors (C1-C18) using a functional CFTR assay in human intestinal CF organoids.Function of both CFTR-p.Phe508del and -p.Ala455Glu was enhanced by a variety of correctors but no residual or corrector-induced activity was associated with CFTR-p.Asn1303Lys.
|
27103391 |
2016 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed.
|
9591500 |
1998 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM.
|
8707298 |
1996 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
A455E is a common mutation causing cystic fibrosis in the Netherlands.
|
7539891 |
1995 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype.
|
22390181 |
2012 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa.
|
10764788 |
2000 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The geographical distribution of the birth places of the patients and obligate carriers of the 621 + 1G-->T, the A455E and the delta F508 mutations (which accounted for 89% of the CF chromosomes) showed differences that can be explained by some degree of isolation but also by differential migration.
|
8886242 |
1997 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Because most commercial kits and laboratory-developed tests for CF c</span>arrier screening involve a short amplicon encompassing this mutation, this finding suggests that individuals with the c.1364C>A (p.A455E) mutation may require further investigation to avoid a false assignment of CF carrier status.
|
25956447 |
2015 |
|
rs79282516
|
|
|
0.810 |
GeneticVariation |
BEFREE |
G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals.
|
7757078 |
1995 |
|
rs193922500
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians.
|
22395041 |
2012 |
|
rs397508195
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The missense mutation V456F adjacent to Walker motif A was present in a pancreas-sufficient CF patient.
|
7505767 |
1994 |
|
rs397508211
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The p.Ser489X CFTR variant is a severe disease-causing CFTR allele that is relatively frequent in the French-Canadian cystic fibrosis patient population, warranting its inclusion into CFTR molecular testing panel for this population.
|
22627569 |
2012 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The allelic distribution and heterozygosity results suggest that c.1408A>G, c.1210-12T(5_9) and c.744-33GATT(6_8) can contribute to carrier detection and prenatal diagnosis of CF in Iranian families with previous history of the disease.
|
23043932 |
2013 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In order to contribute to a better understanding of the dispersion of cystic fibrosis (CF) mutations in the South of France, seven diallelic and three multiallelic markers [three upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (XV-2c, KM 19 and J44) and seven intragenic polymorphism (IVS6A, IVS8CA, M470V, T854T, IVS17BTA, IVS17BCA and TUB18)] were analyzed for 143 delta F508 chromosomes, 100 CF chromosomes carrying 85 non-delta F508 and 15 unknown mutations, and 198 normal CFTR alleles.
|
8707306 |
1996 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three Iranian CBAVD males with no clinical CF phenotype indicated by a normal karyotype, normal pancreatic function and sweat chloride concentration and no Y chromosome microdeletions were studied for CFTR mutations, IVS8-5T mutations and M470V exon 10 missense polymorphism.
|
16973827 |
2006 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
|
26358851 |
2015 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations.
|
1545831 |
1992 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Absolute linkage between delta F508 and the KM.19-GATT-TUB9-M470V-T854T haplotype (2-2-1-1-1) predicts a relatively recent appearance of delta F508 in Indian CF patients.
|
18782298 |
2009 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The analysis of 2 diallelic loci (M470V and T854T) and a microsatellite IVS8(T)n of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has shown different haplotype distribution in Brazilian cystic fibrosis (CF) chromosomes carrying different CF mutations.
|
16837565 |
2006 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Analysis of intron 8 (TG)mTn and M470V polymorphic loci did not permit the characterization of the CFTR dysfunction underlying the CF phenotype in the patients for which no CFTR mutation was identified.
|
17020467 |
2006 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21.
|
1371263 |
1992 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis (CF) frequency remains to be evaluated.
|
22842702 |
2012 |
|
rs74571530
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Both patients with the complex allele F508C-S1251N are carrying delta F508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease.
|
1284535 |
1992 |
|
rs74571530
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although frequencies of F508C did not vary significantly between 850 individuals undergoing cystic fibrosis</span> carrier screening and those submitted for diagnostic testing on suspicion of cystic fibrosis, the frequency of F508C in the congenital bilateral absence of the vas deferens population was significantly higher than expected (chi2 = 6.95, corrected P = 0.0486).
|
19092444 |
2008 |
|
rs397508185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus.
|
20179644 |
2010 |