ABCC7 p.Glu527Gln

ClinVar: c.1581A>G , p.Glu527= N , Benign
c.1579G>C , p.Glu527Gln ? , not provided
CF databases: c.1579G>C , p.Glu527Gln (CFTR1) D , The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in heterozygous form in a patient thought to be mildly affected with CF, with age of onset at 20 years, chronic bronchietasis, malabsorption and x-ray findings suggestive of CF. Her other mutation is [delta]F508. We have seen it only once in this patient referred by the Leicester Genetic Center at Leicester among over 200 non-[delta]F508 chromosomes screened.
c.1580A>G , p.Glu527Gly (CFTR1) ? , The mutation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Enzyme Analysis: it destroys a MboII restriction site. It was found once out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation.The mutation on the other chromosome of the patient is [delta]F508. The mutation was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients.
Predicted by SNAP2: A: N (61%), C: N (66%), D: N (93%), F: D (59%), G: D (53%), H: N (66%), I: D (53%), K: N (93%), L: D (53%), M: N (57%), N: N (61%), P: D (66%), Q: N (97%), R: D (59%), S: N (57%), T: N (61%), V: N (57%), W: D (59%), Y: D (53%),
Predicted by PROVEAN: A: N, C: D, D: N, F: N, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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[hide] Da Paula AC, Sousa M, Xu Z, Dawson ES, Boyd AC, Sheppard DN, Amaral MD
Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.
J Biol Chem. 2010 Aug 27;285(35):27033-44. Epub 2010 Jun 15., 2010-08-27 [PMID:20551307] [PubMed]

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