ABCMdb

ABCC7 p.Gly27*

None has been submitted yet.

Publications

PMID: 12950098 [PubMed] Williams SH et al: "Evaluation of gene targeting by homologous recombination in ovine somatic cells."

No. Sentence Comment

40 The G27X mutation in exon 2, which has been reported in a CF patient (Shackleton and Harris, 1992), is caused by a G > T base change introducing a premature stop codon at amino acid 27 in the CFTR protein. Login to comment
41 Primers VIN9 (50 -AAGAAATGATACAGACA- GCGCTTGGAATTCGTCAG-30 ) and VIN10 (50 -TC- TGACGAATTCCAAGCGCTGTCTGTATCATTTCT-30 ) were designed to contain the G27X stop codon mutation (shown in bold) and a single base was inserted downstream of the G27X mutation to create a frame shift mutation and generate an Eco RI restriction enzyme site (shown in italics). Login to comment
42 The G27X mutation was introduced into the 4.5 kb exon 2-containing clone by the QuickChange Site-directed Mutagenesis Kit (Stratagene, La Jolla, CA). Login to comment
133 Long range PCR was also applied to the analysis of the G27X-targeted cells using the primer pair GLONGF/ GLONGR that amplified the intron 1/exon 2 region of ovine CFTR including 6.39 kb from the G27XDTneo targeting construct (Fig. 1). 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: 8956039 [PubMed] Hughes DJ et al: "Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes."

No. Sentence Comment

71 All Mutationsand Polvmorphisms(control and new) Identified by DGGE in This Studv 1 2 3 4 5 6a 6b 7 8 9 10 11 12 13partl 13part2 13part3 13part4 14a 14b 15 16 17a 17bpartl 17bpart2 18 19 20 21 22 23 24 _ _ _ _ _ ~ ~ ~ DGGE Denaturant Run time (exon) Mutation" (range of %) Voltage (hr) 125G>C (p),129G>C (p),M11 (G>T), Q2X, 182delT 40-80 150 4 G27X. Login to comment

PMID: 7526925 [PubMed] Hull J et al: "Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells."

No. Sentence Comment

47 The 4 mutations that were not detected were 182delT (11), G27X (15), R553X (14) and W1O98R (Tsui pers comm). Login to comment
51 182delT (11) G27X (15) G85E0 (8) £92*? Login to comment
75 Mutations not detected by the chemical cleavage technique The mutations that this method failed to detect were 182delT (exon 1, A-6 set), G27X (G to T substitution, exon 2, A-6 set), R553X (C to T substitution, exon 11, B set), and W1098R (T to C substitution, exon 17b, E set). Login to comment
82 Analysis of the full length cDNA fragments A-6 and E respectively, by direct sequencing in the case of G27X, and by restriction enzyme digestion for the W1098R mutation (the T to C mutation creates a unique Mspl recognition site in the E fragment), demonstrated that both mutations were present in their respective full length fragments of amplified cDNA. Login to comment
100 The G27X mutation results from a G to T change, producing a C-T mismatch which should be readily detectable by hydroxylamine. Login to comment

PMID: 7521710 [PubMed] Ravnik-Glavac M et al: "Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene."

No. Sentence Comment

120 Exon 1: S4X (24), 186-13C-G (F£rec et al., pers. comm.); Exon 2: G27X (Shacldeton and Harris, pers. comm.), Q30X (Chilldn aal., pers. comm.), R31L (Zielenski et al., pers. comm.), Q39X (25); Exon 3: 300delA (Malone et al., pers. comm.), W57G (Ferrari et al., pers. comm.), W57X (26), E60X (Malone et al., pers. comm.), R74W (Claustres et al., pers. comm.), R75Q (27), G85E (28), 394delTT (Claustres et al., pers. comm.), L88X (Maceketal., pers. comm.), L88S (Malone et al., pers. comm.), 405 + 1G-A (Dork and Tummler, pers. comm.); Exon 4: E92K (Chillon et al., pers. comm.), E92X (D6rk a al., pers. comm.), P99L (Schwartz and Holmberg, pers. comm.), 441delA (Zielenski et al., pers. comm.), 444delA (29), 457TAT-C- (F£rec et al., pers. comm., (21), Dl 10H (14), Rl 17C (D6rk et al., pers. comm.), Rl 17H (14), A120T (Chillon et al., pers. comm.), 541delC (30), 556delA (28), I148T (Rininsland et al., pers. comm.), Q151X (Shacldeton et al., pers. comm.), 621 + 1C-T (28), 622-2A-C (31); Exon5:G178R (28), 681delC (Zielenski a al., pers. comm.), 711 + 1G-T (28); Exon 6a: H199Y (Dork and Tummler, pers. comm.), H199Q (Dean etal., pers. comm.), L206W (Claustres et al., pers. comm.), Q220X (Shacldeton and Harris, pers. comm., Schwartz and Holmberg, pers. comm.), 852del22 (32); Exon 6b: 977insA (33); Exon7:F311L(34). Login to comment

PMID: 1284531 [PubMed] Shackleton S et al: "G27X: a novel mutation in exon 2 of the CF gene."

No. Sentence Comment

10 The patient with the G27X/AF508 genotype has classical cystic fibrosis and pancreatic insufficiency. Login to comment
15 It remains to be seen whether G27X will be common enough to occur sufficiently often in a homozygote state for any worthwhile genotype/phenotype predictions to be made. Login to comment