ABCC7 p.Pro1072Leu
| CF databases: |
c.3215C>T
,
p.Pro1072Leu
(CFTR1)
?
, P1072L was detected by DGGE analysis and identified by automatic sequencing in a COPD patient with chronic bronchitis. The mutation creates an Alu I restriction site. It was found once out of 104 chromosomes of COPD patients. It was never observed in 120 control chromosomes, in 46 chromosomes of DBE patients, and in 104 chromosomes of CF patients.
|
| Predicted by SNAP2: | A: N (57%), C: D (59%), D: N (53%), E: N (61%), F: D (85%), G: D (53%), H: D (53%), I: D (63%), K: N (57%), L: N (53%), M: D (63%), N: N (72%), Q: N (61%), R: N (57%), S: N (78%), T: N (72%), V: D (59%), W: D (85%), Y: D (75%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Complete mutational screening of the CFTR gene in ... Hum Genet. 1998 Dec;103(6):718-22. Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile LS, Luisetti M, Pignatti PF
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
Hum Genet. 1998 Dec;103(6):718-22., [PMID:9921909]
Abstract [show]
In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete screening of the CFTR gene was performed in 120 Italian patients with disseminated bronchiectasis of unknown cause (DBE), chronic bronchitis (CB), pulmonary emphysema (E), lung cancer (LC), sarcoidosis (S) and other forms of pulmonary disease. The 27 exons of the CFTR gene and their intronic flanking regions were analyzed by denaturing gradient gel electrophoresis and automatic sequencing. Mutations were detected in 11/23 DBE (P = 0.009), 7/25 E, 5/27 CB, 5/26 LC, 5/8 S (P = 0.013), 1/4 tuberculosis, and 1/5 pneumonia patients, and in 5/33 controls. Moreover, the IVS8-5T allele was detected in 6/25 E patients (P = 0.038). Four new mutations were identified: D651N, 2377C/T, E826K, and P1072L. These results confirm the involvement of the CFTR gene in disseminated bronchiectasis of unknown origin, and suggest a possible role for CFTR gene mutations in sarcoidosis, and for the 5T allele in pulmonary emphysema.
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No. Sentence Comment
4 Four new mutations were identified: D651N, 2377C/T, E826K, and P1072L.
X
ABCC7 p.Pro1072Leu 9921909:4:63
status: NEW63 Three novel mutations were first identified in this study: D651N, E826K, and P1072L.
X
ABCC7 p.Pro1072Leu 9921909:63:77
status: NEW80 P1072L, a C to T transition was detected at nucleotide 3347 in exon 17b, which encodes part of the second transmembrane domain.
X
ABCC7 p.Pro1072Leu 9921909:80:0
status: NEW88 of cases CFTR gene PolyTb status tested mutationa DBE 23 1 G576A-R668C/L997F 7/9 1 ∆F508/L997F 9/9 1 ∆F508/- 7/9 1 R1066C/- 5/7 1 3667ins4/- 5/7 1 R75Q/- 7/7 1 M1137V/- 7/7 1 -/- 5/5 3 -/- 5/7 10 -/- 7/7 2 -/- 7/9 CB 27 1 P111L/- 7/7 1 R117H/- 7/7 1 E585X/- 7/7 1 P1072L/- 7/7 1 -/- 5/7 15 -/- 7/7 6 -/- 7/9 1 -/- 9/9 E 25 1 R668C/- 7/7 6 -/- 5/7 16 -/- 7/7 6 -/- 7/9 S 8 1 E826K/- 7/7 1 ∆F508/- 7/9 1 4382delA/- 7/7 1 L997F/- 7/9 1 V754M/- 7/9 3 -/- 7/7 LC 26 1 I148T/- 5/7 1 D1270N-R74W 5/7 1 D651N/- 7/7 1 Y301C/- 7/7 1 -/- 5/7 16 -/- 7/7 5 -/- 7/9 TB 4 1 -/- 5/7 1 -/- 7/7 2 -/- 7/9 Pneumonia 5 4 -/- 7/7 1 -/- 5/7 Pnx 2 2 -/- 7/7 Controls 68 1 L997F/- 7/9 1 R31C/- 7/7 1 I506V/- 5/7 1 -/- 5/7 1 -/- 5/9 23 -/- 7/7 4 -/- 7/9 1 -/- 9/9 2 ?
X
ABCC7 p.Pro1072Leu 9921909:88:278
status: NEW