ABCC7 p.Ile991Val
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PMID: 10980579
[PubMed]
Bombieri C et al: "Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study."
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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.
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ABCC7 p.Ile991Val 10980579:3:161
status: NEW33 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).
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ABCC7 p.Ile991Val 10980579:33:136
status: NEW38 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.
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ABCC7 p.Ile991Val 10980579:38:205
status: NEW45 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.
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ABCC7 p.Ile991Val 10980579:45:54
status: NEW52 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.
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ABCC7 p.Ile991Val 10980579:52:406
status: NEW