|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
BEFREE |
A455E is a common mutation causing cystic fibrosis in the Netherlands.
|
7539891 |
1995 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
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
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
|
1710600 |
1991 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
A |
0.880 |
CausalMutation |
CLINVAR |
CFTR2: How will it help care?
|
23466340 |
2013 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
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
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
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
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
BEFREE |
CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype.
|
22390181 |
2012 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
|
rs74551128
|
CFTR;CFTR-AS1
|
Cystic Fibrosis
|
|
0.880 |
GeneticVariation |
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |