|
rs202179988
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations of the arginine residue at codon 1070 have been associated with different disease consequences; R1070P and R1070Q with "severe" pancreatic insufficient cystic fibrosis (CF) and R1070W with "mild" pancreatic sufficient CF or congenital bilateral absence of the vas deferens.
|
18951463 |
2008 |
|
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 |
|
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 |
|
rs1800076
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There are two other sequence variations in the CFTR gene; one of them (129G----C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region.
|
1710599 |
1991 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Deletion of Phe<sup>508</sup> (ΔF508), the most prevalent mutation in CF, and other mutations in CFTR that impair its trafficking, such as N1303K, also led to quantitative and qualitative PTM changes that prevented the maturation of misfolded CFTR.
|
30600261 |
2019 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject.
|
31776420 |
2019 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF.
|
28655774 |
2017 |
|
rs397508638
|
|
|
0.100 |
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 |
|
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
|
26358851 |
2015 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations.
|
24310628 |
2014 |
|
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 |
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 |
|
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 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%).
|
19715466 |
2009 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The CFTR genotype N1303K/IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD).
|
17127107 |
2007 |
|
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 |
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 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We investigate whether the (paternal) M348K mutation is a benign polymorphism or a disease-causing mutation in a patient clinically affected with CF, with the second (maternal) CFTR allele identified as N1303K.
|
15614862 |
2004 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.
|
15357568 |
2004 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T. Eight novel mutations were identified.
|
10834512 |
2000 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Eleven CRS patients were found to have a CF mutation (DeltaF508, n = 9; G542X, n = 1; and N1303K, n = 1).
|
11025834 |
2000 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three mutations, delta F508 (37.5%), W1282X (15.6%), and N1303K (9.4%) accounted for 62.5% of CF alleles.
|
9254864 |
1997 |
|
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 |
|
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common CF mutations, delta F508, G542X, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations.
|
8844213 |
1996 |