ABCMdb

ABCC7 p.Ile991Val

CF databases:	c.2971A>G , p.Ile991Val (CFTR1) ? , This mutation was detected by DGGE analysis and identified by automatic sequencing. It was found once out of 68 chromosomes, in an adult male patient with sarcoidosis. It was never observed in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients, in 46 chromosomes of Diffuse Bronchiectasis (DBE) patients, in 106 chromosomes of CF patients, and in 600 control chromosomes.
Predicted by SNAP2:	A: N (53%), C: N (61%), D: D (80%), E: D (80%), F: N (87%), G: D (80%), H: D (66%), K: D (85%), L: N (93%), M: N (82%), N: D (71%), P: D (85%), Q: D (66%), R: D (85%), S: D (63%), T: N (53%), V: N (87%), W: D (63%), Y: D (75%),
Predicted by PROVEAN:	A: N, C: N, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: D, Y: N,

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[hide] Increased frequency of CFTR gene mutations in sarc... Eur J Hum Genet. 2000 Sep;8(9):717-20. Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
Eur J Hum Genet. 2000 Sep;8(9):717-20., [PMID:10980579]

Abstract [show]
A complete screening of the CFTR gene by DGGE and DNA sequencing was performed in patients with sarcoidosis. In 8/26 cases, missense and splicing CFTR gene mutations were found, a significant difference over controls (9/89) from the same population (P = 0.014). The odds ratio for a person with a CFTR gene mutation to develop the disease is 3.95 (1.18 < OR < 13.26). Seven different CFTR gene mutations were observed: R75Q, R347P, 621 + 3 A/G, 1898 + 3 A/G, L997F, G1069R, and a novel mutation which was detected in this study, I991V. R75Q mutation was present in 3/26 patients, a significant increase (P = 0. 01) in cases over controls, indicating its preferential association with sarcoidosis. A trend towards disease progression was observed in patients with CFTR gene mutations compared to patients without mutations. These data suggest that CFTR gene mutations predispose to the development of sarcoidosis.

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3 Seven different CFTR gene mutations were observed: R75Q, R347P, 621 + 3 A/G, 1898 + 3 A/G, L997F, G1069R, and a novel mutation which was detected in this study, I991V. R75Q mutation was present in 3/26 patients, a significant increase (P = 0.01) in cases over controls, indicating its preferential association with sarcoidosis. Login to comment
33 Seven different missense or splicing mutations were found in the eight patients: R75Q, R347P, 1898 + 3 A/G, 621 + 3 A/G, L997F, G1069R, I991V. R75Q was present in three patients (nos. 15, 21, 27). Login to comment
38 Mutation 621 + 3 A/G abolishes the donor splice site (program cited in Methods), with the possible consequence of exon 4 skipping from mature mRNA. L997F was found also in disseminated bronchiectasis.7,16 I991V is a novel mutation here described for the first time: it changes isoleucine to valine (both hydrophobic residues) in the second transmembrane domain. Login to comment
45 With the exception of two novel mutations, E826K7 and I991V (this study), all the mutations present in the 34 patients with sarcoidosis (R75Q, 621 + 3 A/G, R347P, DF508, 1898 + 3 A/G, V754M, L997F, G1069R, 4382 del A) have also been observed in CF and CF-related diseases. Login to comment
52 Sarcoidosis is a complex disease in which genetic and environmental factors may play Table 2 CFTR genotypes of sarcoidosis patients (n = 26) Missense and Same sense and ID splicing mutations intronic mutations TGm-Tn M470V 11 G1069R 11-7/12-7 V/V 13 R347P 4404 C/T 10-7/11-7 M/V 15 R75Q, 1898+3A/G 186-13 C/G 11-7/11-7 V/V 20 621+3 A/G 10-7/10-7 M/M 21 R75Q 11-7/11-7 V/V 27 R75Q 1716 G/A 10-7/11-7 M/V 31 I991V 11-7/10-9 M/V 32 L997F 4002 A/G, 3041-71 G/C 10-9/11-9 M/V 10 4404 C/T 11-7/11-7 V/V 18 4002 A/G 11-7/12-7 M/V 24 3417 A/T 11-7/11-7 V/V 28 4002 A/G 11-7/11-7 M/V 34 4002 A/G 11-7/11-7 M/V 26 12-5/11-7 V/V 16 12-5/11-7 V/V 9 11-7/11-7 V/V 12 12-7/10-9 M/M 14 11-7/10-9 M/V 17 11-7/11-7 V/V 19 11-7/10-9 M/V 22 10-7/11-7 M/V 23 10-7/11-7 M/V 25 10-7/11-7 M/V 29 11-7/11-9 M/V 30 11-7/11-7 V/V 33 11-7/12-7 V/V The phase of the mutations is not known, as no segregation analysis was possible. Login to comment