ABCC7 p.Asn189Lys
| ClinVar: |
c.567C>A
,
p.Asn189Lys
?
, not provided
|
| CF databases: |
c.566A>G
,
p.Asn189Ser
(CFTR1)
?
,
c.567C>A , p.Asn189Lys (CFTR1) ? , This is a new mutation. |
| Predicted by SNAP2: | A: N (57%), C: D (59%), D: N (61%), E: D (71%), F: D (71%), G: N (66%), H: D (66%), I: D (71%), K: D (75%), L: D (75%), M: D (66%), P: D (75%), Q: D (59%), R: D (75%), S: N (66%), T: D (53%), V: D (71%), W: D (80%), Y: D (71%), |
| Predicted by PROVEAN: | A: D, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: N, |
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[hide] Cystic fibrosis transmembrane conductance regulato... Drugs. 2010 Feb 12;70(3):241-59. doi: 10.2165/11316160-000000000-00000. Becq F
Cystic fibrosis transmembrane conductance regulator modulators for personalized drug treatment of cystic fibrosis: progress to date.
Drugs. 2010 Feb 12;70(3):241-59. doi: 10.2165/11316160-000000000-00000., [PMID:20166764]
Abstract [show]
This article considers the issue of personalized drug discovery for the orphan disease cystic fibrosis (CF) to deliver a candidate for therapeutic development. CF is a very complicated disease due to numerous anomalies of the gene leading to progressive severity and morbidity. Despite extensive research efforts, 20 years after the cloning of the CF gene, CF patients are still waiting for a curative treatment as prescribed medications still target the secondary manifestations of the disease rather than the gene or the CF transmembrane conductance regulator (CFTR) protein. New therapeutics aimed at improving mutant CFTR functions, also known as 'protein repair therapy' are nevertheless hoped and predicted to replace some of the currently used therapy, while improving the quality of life as well as life expectancy of CF patients. Although there is substantial variability in the cost of treating CF between countries, a protein repair therapy should also alleviate the financial burden of medical costs for CF patients and their families. Finding new drugs or rediscovering old ones for CF is critically dependent on the delivery of molecular and structural information on the CFTR protein, on its mutated version and on the network of CFTR-interacting proteins. The expertise needed to turn compounds into marketable drugs for CF will depend on our ability to provide biological information obtained from pertinent models of the disease and on our success in transferring safe molecules to clinical trials. Predicting a drug-induced response is also an attractive challenge that could be rapidly applied to patients.
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No. Sentence Comment
64 Instead, a novel missense mutation N189K was identified in a Chinese patient.
X
ABCC7 p.Asn189Lys 20166764:64:35
status: NEW