ABCMdb

ABCC7 p.Gly27Glu

None has been submitted yet.

Publications

PMID: 10439967 [PubMed] Liechti-Gallati S et al: "Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease."

No. Sentence Comment

20 The distribution of analysed known mutations is similar to that of the total number of mutations in the entire CFTR gene: missense mutations account for 35% (G27E, G85E, R117H, A120T, I148T, H199Y, R334W, T338I, R347P, R347H, A455E, M718K, S5449N, S5449I, G551D, R560T, R560S, S945L, S977P, I1005R, R1066C, R1070Q, M1101K, D1152H, S1235R, R1283M, N1303K, N1303H), followed by 28% of frameshift mutations (175delC, 394delTT, 457TAT- > G, 905delG, 1078delT, I507, F508, 1609delCA, 1677delTA, 2143delT, 2176insC, 218delA, 2184insA, 2869insG, 3659delC, 3732delA, 3821delT, 3905insT, 4016insT, 4172delGC, 4382delA), 21% of nonsense mutations (Q30X, Q39X, Q220X, W401X, Q525X, G542X, Q552X, R553X, V569X, E585X, K710X, R792X, Y1092X, R1162X, S1255X, W1282X, E1371X), and 16% of splice site mutations (621 + 1G- > T, 711 + 1G- > T, 711 + 5G- > A, 1717-1G- > A, 1898 + 1G- > A, 1898 + 5G- > T, 2789 + 5G- > A, 3271 + 1G- > A, 3272-26A- > G, 3601-17T- > C, 3849 + 4A- > G, 3849 + 10kbC- > T, 4374 + 1G- > T). Login to comment

PMID: 20059485 [PubMed] Dorfman R et al: "Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?"

No. Sentence Comment

64 Mutations in the CFTR gene grouped by clinical category Cystic fibrosis CFTR-related disease No disease T338I D614G L320V V920L L90S M470V H199R S1251N I203M G550R P111A I148T Q1291H R560K L1388Q L183I R170H I1027T S549R D443Y P499A L1414S T908N R668C S549N A455E E1401K Q151K G27E I1234L Y563N R347P C866R S1118C P1290S R75Q A559T V520F P841R M469V E1401G P67L G85E S50Y E1409K R933G G458V G178R Y1032C R248T I980K G85V V392G L973P L137H T351S R334W I444S V938G R792G R560T R555G L1339F D1305E P574H V1240G T1053I D58G G551D L1335P I918M F994C S945L L558S F1337V R810G D1152H G1247R P574S R766M D579G W1098R H949R F200I R352Q L1077P K1351E M244K L206W M1101K D1154G L375F N1303K R1066C E528D D110Y R347H R1070Q A800G P1021S S549K A1364V V392A damaging` (is supposed to affect protein function or structure) and 'probably damaging` (high confidence of affecting protein function or structure). Login to comment

PMID: 16423550 [PubMed] Ramirez AM et al: "Mutational spectrum of cystic fibrosis patients from Cordoba province and its zone of influence: implications of molecular diagnosis in Argentina."

No. Sentence Comment

98 About of the novel mutations, our results suggest that p.G27R correlate with a severe phenotype likewise that p.G27X previously described, while another mutation in the same codon, p.G27E, has a milder clinical presentation of CF with late onset of symptoms, diagnosed at 41 years with CBAVD, pancreatic suYciency and mild pulmonary disease [20,21]. Login to comment

PMID: 10923036 [PubMed] Claustres M et al: "Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France."

No. Sentence Comment

109 h M1K, K14X, W19X, 211delG, G27E, R31C, 237insA, 241delAT, Q39X, 244delTA, 296+2T>C, 297-3C>T, W57X+F87L, 306delTAGA, P67L, A72D, 347delC, R75Q, 359insT, 394delT, 405+4A>G, Q98R, 457TAT>G, R117H+5T, R117H+I1027T, R117L, R117P, H139R, A141D, M152V, N186K, D192N, D192del, E193X, 711+1G>A, 711+3A>G, 712-1G>T, L206F, W216X, C225R, Q237E, G241R, 852del22, 876-14del12, 905delG, 993del5, E292K, Y304X, F311del, 1161delC, R347L, R352Q, W361R, 1215delG, S364P, S434X, D443Y, S466X, C491R, T501A, I506T, F508C, I507del+F508C, F508del+L467F, 1774delCT, R553G, 1802delC, 1806delA, A559E, Y563N, 1833delT, Y569C, Y569H, Y569X, G576X, G576A, T582I, 1898+3A>G+186-13C>G, 1918delGC, R600G, L610S, G628R, 2043delG, 2118del4, E664X, 2174insA, Q689X, K698R, K716X, L732X, 2347delG, 2372del8, R764X, 2423delG, S776X, 2634insT, 2640delT, C866Y, 2752-1G>T, W882X, Y913C, V920M, 2896insAG, H939D, H939R, D979V, D985H, D993Y, 3120G>A, I1005R, 3195del6, 3293delA, 3320ins5, W1063X, A1067T, 3359delCT, T1086I, W1089X, Y1092X+S1235R, W1098X, E1104X, R1128X, 3532AC>GTA, 3548TCAT>G, M1140del, 3600G>A, R1162L, 3667ins4, 3732delA+K1200E, S1206X, 3791delC, S1235R+5T, Q1238R, Q1238X, 3849+4A>G, T1246I, 3869insG, S1255P, R1283K, F1286S, 4005+1G>T, 4006-8T>A, 4015delA, N1303H, N1303I, 4172delGC, 4218insT, 4326delTC, Q1382X, 4375-1C>T, 4382delA, D1445N, CF40kbdel4-10, Cfdel17b. Login to comment

PMID: 8947061 [PubMed] Hubert D et al: "Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients."

No. Sentence Comment

77 - Genotype of the 110 CF patients: details of the CF mutations and classification into four groups Genotype Genotype Pts groups n 1 ∆F508/∆F508 48* 2 ∆F508/G542X 6 ∆F508/E827X 3† ∆F508/R553X 2 ∆F508/W1282X 2 ∆F508/E595X 1 ∆F508/E60X 1 ∆F508/W846X 1 ∆F508/1078delT 1 ∆F508/2143delT 1 ∆F508/2347delG 1 ∆F508/3659delC 1 ∆F508/4382delA 1 ∆F508/2183 AA→G 1 ∆F508/1717-1 G→A 1 ∆F508/1811+1.6 kb A→G 1 E595X/Y1092X 1 1717-1 G→A/1078delT 1 3 ∆F508/I336K 1 ∆F508/G27E 1 ∆F508/D192N 1 ∆F508//I980K 1 ∆F508/P205S 1 ∆F508/2789+5 G→A 1 ∆F508/3272-26 A→G 1 G542X/3849+10 kb C→T 2‡ G542X/2789+5 G→A 1 W361R/297-3 C→T 1 G551D/1717-1 G→A 1 N1303H/2183 AA→G 1 2789+5 G→A/2183 AA→G 1 R1070Q/D1152H 1 R1070Q/unidentified 1 S1251N/unidentified 1 4 ∆F508/unidentified 7 ∆I507/unidentified 2 1811+1.6 kb A→G/unidentified 1 1161delC/unidentified 1 unidentified/unidentified 8 *: two patients are brothers; †: three brothers; ‡: two sisters. Login to comment
107 - Characteristics of patients with FEV1 >70% of predicted value Age at P. aeruginosa PI Hepatic Genotype Age diagnosis FVC FEV1 colonization cirrhosis yrs yrs % pred % pred Group 1 ∆F508/∆F508 18 <1 83 75 Yes Yes No ∆F508/∆F508 19 8 88 72 Yes Yes Yes ∆F508/∆F508 24 <1 87 84 Yes Yes No ∆F508/∆F508 25 13 85 82 Yes Yes No ∆F508/∆F508 37 34 90 83 No Yes No Group 2 ∆F508/E827X 18 <1 82 76 Yes Yes Yes ∆F508/W846X 29 27 101 95 No Yes No ∆F508/W1282X 31 28 91 77 No Yes No Group 3 2789+5 G→A/G542X 18 2 107 103 No No No 2789+5 G→A/2183 AA→G 36 34 93 87 No No No ∆F508/G27E 39 28 115 78 No No No Group 4 ∆I507/unid 18 <1 103 103 No Yes No unid/unid 26 5 89 77 No Yes No unid/unid 39 38 96 87 No No No unid/unid 40 38 110 106 No No No PI: pancreatic insufficiency; unid: unidentified. For further definitions see legend to tables 1 and 3. and the nature of pulmonary infection are very different among patients. Login to comment

PMID: 7516232 [PubMed] Bienvenu T et al: "A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient."

No. Sentence Comment

1 2 365-366 A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient Thierry Bienvenu*, Cecile Cazeneuve, Cherlf Beldjord, Daniel Dusser1 , Jean Claude Kaplan and Dominique Hubert1 Laboratoire de Bkxhimie Gen&ique, HOpital Cochin, 123 Bd de Port Royal, 75014 Paris and 1 Service de Pneumotogie, Hopital Cochin, Paris, France Received September 27, 1993; Revised and Accepted December 15, 1993 Cystic Fibrosis (CF) is the most common severe autosomal recessive disorder in the Caucasian population, affecting approximately 1 in 2500 live births (1). Login to comment
17 Direct sequencing of this PCR product showed one novel mutation, a missense mutation in exon 2 named G27E (G-A at 212) (Figure lb). Login to comment
19 We believe that the new missense mutation represents disease-causing mutation because it was not found among more than 100 normal 10% M C N 60% Figure 1. a) Detection of G27E mutation by Denaturing Gradient Gel Electrophoresis: M, G27E, C, control Q30X, N, normal sample b) DNA sequence analysis of the mutation G27E. Login to comment
34 The missense mutation G27E, which results in a glutamic acid for a glycine at position 27, produces very mild symptoms, despite the radical change in amino acid sequence. Login to comment
37 Missense mutations such as this novel mutation G27E that we describe in this report could contribute to the less severe expression of the disease associated with pancreatic sufficiency. Login to comment
38 We must wait the finding of a homozygous patient for G27E to see whether or not it results in a mild phenotype. Login to comment
39 Functional studies of this mutation, regarding the chloride channel activity of CFTR for G27E, should provide further insights about its role in the CF phenotype. Login to comment