ABCMdb

ABCC7 p.Glu692*

None has been submitted yet.

Publications

PMID: 17331079 [PubMed] Alonso MJ et al: "Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry."

No. Sentence Comment

52 Mutation 0.46-0.35 9 c.1078delT #, p.R347P # 8 p.G85V, c.621 + 1G > T #, p.S549R (T > G) #, p.R553X #, c.3849 + 10kbC > T # 7 p.R347H #, c.1812-1G > A, p.R709X 0.30-0.10 6 p.H199Y, p.P205S, 5 p.R117H #, p.G551D #, p.W1089X, p.Y1092X, CFTR50kbdel 4 c.296 + 3insT, c.1717-1G > A #, c.1949del84, c.3849 + 1G > A 3 p.E92K, c.936delTA, c.1717-8G > A, c.1341G > A, p.A561E, c.2603delT, p.G1244E, [p.D1270N; p.R74W] 2 p.Q2X, p.P5L, CFTRdele2,3, p.S50P, p.E60K, c.405 + 1G > A, c.1677delTA, p.L558S, p.G673X, p.R851X, p.Y1014C, p.Q1100P, p.M1101K, p.D1152H, CFTRdele19, p.G1244V, p.Q1281X, p.Y1381X <0,1 1 c.124del23bp, p.Q30X, p.W57X, c.406-1G > A, p.Q98R, p.E115del, c.519delT, p.L159S, c.711 + 3A > T, p.W202X, c.875 + 1G > A, p.E278del, p.W361R, c.1215delG, p.L365P, p.A399D, c.1548delG, p.K536X, p.R560G, c.1782delA, p.L571S, [p.G576A; p.R668C], p.T582R, p.E585X, c.1898 + 1G > A, c.1898 + 3A > G, c.2051delTT, p.E692X, p.R851L, c.2711delT, c.2751 + 3A > G, c.2752-26A > G, p.D924N, p.S945L, c.3121-1G > A, p.V1008D, p.L1065R, [p.R1070W; p.R668C], [p.F1074L; 5T], p.H1085R, p.R1158X, c.3659delC #, c.3667del4, c.3737delA, c.3860ins31, c.3905insT #, c.4005 + 1G > A, p.T1299I, p.E1308X, p.Q1313X, c.4095 + 2T > A, rearrangements study (n = 4) Mutations identified in CF families with mixed European origin: c.182delT, p.L1254X, c.4010del4. Login to comment

PMID: 9439669 [PubMed] Casals T et al: "High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes."

No. Sentence Comment

2 Among these we have detected seven novel CFTR mutations, including four missense (G85V, T582R, R851L and F1074L), two nonsense (E692X and Q1281X) and one splice site mutation (711+3A→T). Login to comment
4 Mutations G85V, T582R, R851L, E692X and Q1281X are severe, with lung and pancreatic involvement; 711+3A→T could be responsible for a pancreatic sufficiency/insufficiency variable phenotype; and F1074L was associated with a mild phenotype. Login to comment
13 Among these are seven novel CFTR mutations, including four missense (G85V, T582R, R851L and F1074L), two nonsense (E692X and Q1281X) and one splice site mutation (711+3A→T). Login to comment
56 The patient carries the 1609delCA mutation on the paternal chromo- 367 Table 2 Seven new mutations and three DNA variants in the CFTR gene (IVS intervening sequence, DGGE denaturing gradient gel electrophoresis, SSCA single-strand conformation analysis) Mutations Exon/ CFTR Haplotype IVS Detection intron domain method 8CA 17bTA 17bCA G85V E.3 TM1 17 7 17 DGGE 711+3A→T I.5 - 15 7 17 DGGE T582R E.12 NB1 18 37 13 DGGE E692X E.13 R 16 46 13 SSCA R851L E.14a - 23 21 19 DGGE F1074L E.17b - 17 31 13 DGGE Q1281X E.20 NB2 16 28 13 DGGE Variants 406-112A/T I.3 - - SSCA 3850-129T/C I.19 - - DGGE 741C/T E.6a - - SSCA Fig.1 a Multiplex denaturing gradient gel electrophoretic analysis for exons 8, 5 and 18 of the CFTR gene. Login to comment
61 E692X The SSCA screening for exon 13 detected a G→T nucleotide change at position 2206 of CFTR, which gives rise to the nonsense mutation E692X (glutamic acid to the TAG stop codon; Fig.2). Login to comment
80 368 Fig.2 a Single-strand conformation analysis of exon 13a of the CFTR gene with three abnormal patterns: lane 4 (1949del84), lane 5 (the new mutation E692X) and lane 6 (K710X). Login to comment
81 b Sequencing analysis of the sample in lane showed the change C → A, which alters the glutamic acid at position 692 to a stop codon (E692X) Discussion A geographical distribution analysis of more than 200 CF mutations in several European populations has detected that the Mediterranean region has the highest level of mutation heterogeneity for CF (Estivill et al. 1997). Login to comment
87 However, from the information obtained here, mutations G85V, T582R, E692X and Q1281X can be considered as severe, with lung and pancreatic involvement. Login to comment