|
rs80055610
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The effects of the mild cystic fibrosis (CF) mutation P574H were analysed and compared with those of three severe ones (delta I507, delta F508 and R560T).
|
7540133 |
1995 |
|
rs80055610
|
|
|
0.820 |
GeneticVariation |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.
|
15357568 |
2004 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Eleven CRS patients were found to have a CF mutation (DeltaF508, n = 9; G542X, n = 1; and N1303K, n = 1).
|
11025834 |
2000 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject.
|
31776420 |
2019 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Three mutations, delta F508 (37.5%), W1282X (15.6%), and N1303K (9.4%) accounted for 62.5% of CF alleles.
|
9254864 |
1997 |
|
rs80034486
|
|
|
0.900 |
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 |
|
rs79850223
|
|
|
0.710 |
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 |
|
rs79660178
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In addition to the frequent delta F508 and Y122X mutations on cystic fibrosis (CF) chromosomes of patients from Reunion Island, one splicing mutation, 3120+1G-->A is observed relatively frequently (12.5%) in this group, in comparison with the French metropolitan population (<0.001 %).
|
8860012 |
1997 |
|
rs79660178
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.
|
15463906 |
2004 |
|
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 |
|
rs78802634
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Complete sequencing of the CFTR gene by next generation sequencing (NGS) revealed two different variants in trans, including the previously reported CF-causing variant c.3266G > A (p.Trp1089*, W1089*), that was inherited from the mother, and the novel/de novo CFTR variant c.1762G > T (p.Glu588*).
|
31118044 |
2019 |
|
rs78769542
|
|
|
0.710 |
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The severity of the CF phenotype is partly dependent on the IVS8 background on which R117H occurs; thus, it is important to be able to test clinically for both these variants.
|
11070158 |
2000 |