ABCC7 p.Gly542Asp
| ClinVar: |
c.1624G>T
,
p.Gly542*
D
, Pathogenic
|
| CF databases: |
c.1624G>T
,
p.Gly542*
D
, CF-causing
c.1625G>A , p.Gly542Glu (CFTR1) ? , |
| Predicted by SNAP2: | A: N (53%), C: D (71%), D: D (85%), E: D (85%), F: D (85%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: N (53%), N: D (80%), P: D (91%), Q: D (80%), R: D (91%), S: N (53%), T: D (80%), V: D (80%), W: D (91%), Y: D (85%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Common CFTR mutations are not likely to predispose... Hum Genet. 1995 Feb;95(2):226-8. Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E
Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.
Hum Genet. 1995 Feb;95(2):226-8., [PMID:7532152]
Abstract [show]
The frequency of six common mutations in the cystic fibrosis transmembrane conductance regulator gene was studied in 100 patients hospitalized with chronic bronchitis. Only one patient with chronic bronchitis and diffuse bronchiectasis was heterozygous for the common delta F508 mutation. R553X, G542X, G551D, N1303K and 621 + 1G-->T were not detected. This result is not significantly different from the frequency of cystic fibrosis carriers in Northern Europe. Predisposition of heterozygotes for chronic bronchitis is therefore unlikely.
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No. Sentence Comment
10 We have analyzed CF carrier frequency and the frequency of the more common CFTR mutations AF508, R553X, G551D, G542D, G542X, N1303K and 621 + 1G--+T by examination of 100 patients with chronic bronchitis.
X
ABCC7 p.Gly542Asp 7532152:10:111
status: NEW