Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D and G1349D to potentiators of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel. 16311240

2006

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation. 23757359

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The CF-associated mutation G551D, by introducing a bulky and negatively charged side chain into site 2, completely abolishes ATP-induced openings of CFTR. 20861014

2010

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE After several successful clinical trials the potentiator, ivacaftor, is now licenced for use in adults and children (>six years), with CF bearing the class III G551D mutation and FDA licence was recently expanded to include 8 additional class III mutations. 24932877

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical studies in patients with cystic fibrosis and G551D-CFTR showed that the group treated with ivacaftor had improved clinical outcomes. 25755212

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. 23590265

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx. 25712891

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Although ivacaftor is currently only licensed for use in approximately 5% of the CF population (those who have at least one Gly551Asp mutation), the developmental pathway established by ivacaftor paves the way for other CFTR modulators that may benefit many more patients. 24039402

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. 24927234

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, is approved for the treatment of patients with cystic fibrosis aged 6 years or older with Gly551Asp-CFTR. 25311995

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The class III CF mutations G551D and G1349D are located within the "signature" sequence LSGGQ and LSHGH of NBD1 and NBD2, respectively. 15163550

2004

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States. 25682022

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor improves appearance of sinus disease on computerised tomography in cystic fibrosis patients with G551D mutation. 25145599

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The unprecedented success of ivacaftor treatment for the G551D CF patient population has generated excitement in the CF care community regarding the expansion of its use to other CF patient populations with primary or secondary gating defects. 24004658

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene. 1376182

1992

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE We also showed a similar pharmacological effect in nasal cells freshly isolated from a delF508/G551D CF patient. 11739639

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor has been previously assessed in patients with cystic fibrosis with Gly551Asp-CFTR or other gating mutations. 26070913

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This pilot study evaluated the effect of short- and long-term ivacaftor treatment on hyperpolarized <sup>3</sup>He-magnetic resonance imaging (MRI)-defined ventilation defects in patients with cystic fibrosis aged ≥12years with a G551D-CFTR mutation. 28132845

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor was approved by the Food and Drug Administration (FDA) to be taken orally at a dose of 150 mg twice a day in G551D CF patients older than 6 years. 22739718

2012

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The potentiator Kalydeco™ (also known as Ivacaftor or VX-770), developed by Vertex Pharmaceuticals, has been recently approved by the US FDA and the European Medicines Agency (EMA) for the treatment of CF patients carrying at least one CFTR allele with the p.Gly551Asp mutation (2-5 % of all patients). 23757197

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D cystic fibrosis transmembrane conductance regulator (CFTR) mutation is associated with severe disease in ∼5% of cystic fibrosis patients worldwide. 25148434

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Interestingly, three CF samples for which one mutant allele remained undefined (deltaoff8/unknown or G551D/unknown) demonstrated no statistical difference in the level of sulfation as compared with matched non-CF controls (n= 3). 8675672

1996

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation: patient-reported outcomes in the STRIVE randomized, controlled trial. 26135562

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with CF and the G551D mutation.N. Engl.J.Med., 2011.365: 1663-1672.)]. 22914736

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Several compounds, the most potent being a trifluoromethylphenylbenzamine, activated the CF-causing mutant G551D, but with much weaker affinity (K(d) > 10 microm). 12161441

2002