ABCMdb

ABCC7 p.Gly27Arg

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Publications

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

9 Finally, 14 mutations were characterized after the CFTR gene scanning, three of them are not previously described (p.G27R, c.622-2A> G, and p.W277R). Login to comment
73 Among these 13 mutations, we detected three novel CFTR mutations (validation of mutations according to HUGO), two missense changes (p.G27R and p.W277R) and one splice site mutation (c.622-2A > G) (Table 3). Login to comment
77 The p.G27R missense mutation was found in a male patient diagnosed at 2 months and who died at 14 years. Login to comment
85 Haplotype (n D 20) No. of chromosomes (n D 64)a Mutations associated (No. of chromosomes) 23-31 14 p.F508del 17-31 7 p.F508del 17-7 7 p.R1066C (3), p.W277R, c.2789 + 5G > A, c.3120 + 1G > A, c.3849 + 10KbC > T 16-7 6 c.3272-26A > G (2), p.G27R, c.622-2A > G, unknown (2) 16-32 5 p.S589I (2), unknown (3) 16-30 3 IVS8-5T (2), unknown 23-33 2 p.G542X, p.R1283M 23-32 2 p.G542X 23-30 2 p.F508del, p.N1303K 24-31 2 p.N1303K 16-24 2 p.G85E 16-31 3 c.1898 + 1G > A, p.W1089X, unknown 16-46 2 c.1811 + 1.6KbA > G 16-25 1 c.711 + 1G > T 16-33 1 Unknown 16-44 1 c.1898 + 1G > A 16-45 1 p.Y913C 16-47 1 c.4005 + 1G > A 17-30 1 Unknown 23-7 1 [c.3199_3204delATAGTG; p.I148T] Table 2 Frequency of the mutations in the 78 CF Argentinean patients of Córdoba region a IdentiWed novel mutations. Login to 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
103 Novel mutationsa Nucleotide change Exon/ Intron Consequence Haplotype IVS 8CA- IVS17bTA Detection method Clinical datab p.G27R G > A at 211 E.2 Gly > Arg 16-7 SSCA and Seq. Login to comment
113 Missense mutations, p.G27R and p.W277R were identiWed in CF patients with severe phenotype and it may postulate that both changes aVect the CFTR activity. Login to comment
114 The p.G27R in the N-terminal region could inXuence the interaction between CFTR and proteins that regulate its expression [23]. Login to comment
111 Missense mutations, p.G27R and p.W277R were identiWed in CF patients with severe phenotype and it may postulate that both changes aVect the CFTR activity. Login to comment
112 The p.G27R in the N-terminal region could inXuence the interaction between CFTR and proteins that regulate its expression [23]. Login to comment

PMID: 23276700 [PubMed] Krenkova P et al: "Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations."

No. Sentence Comment

46 [874GNA]+[2126GNA] E292K/R709Q Ex7/Ex13 4 0.33 22. c.1585-1GNA 1717-1GNA*# In10 4 0.33 23. c.3454 GNC D1152H*# Ex18 4 0.33 24. c.3484CNT R1162X*# Ex19 4 0.33 25. c.4242+1GNT 4374+1GNT In23 4 0.33 26. c.1000CNT R334W*# Ex7 3 0.25 27. c.1767-?_2619+?del CFTRdele13,14a Ex13-Ex14a 3 0.25 28. c.3468+2_3468+3insT 3600+2insT In18 3 0.25 29. c.3469-?_3717+?dup CFTRdup19 Ex19 3 0.25 30. c.3964-78_4242+577del CFTRdele22,23# Ex22-Ex23 3 0.25 31. c.53+1GNT 185+1GNT In1 2 0.17 32. c.54-1161_164+1603del2875 CFTRdele2 Ex2 2 0.17 33. c.169TNG W57G Ex3 2 0.17 34. c.254GNA G85E*# Ex3 2 0.17 35. c.274GNT E92X# Ex4 2 0.17 36. c.328GNC D110H# Ex4 2 0.17 37. c.579+3ANG 711+3ANG# In5 2 0.17 38. c.3528delC 3659delC*# Ex19 2 0.17 39. c.4127_4131delTGGAT 4259del5 Ex22 2 0.17 40. c.1-?_1584+?del CFTRdele1,10 Ex1-Ex10 1 0.08 41. c.115CNT Q39X# Ex1 1 0.08 42. c.79GNC G27R Ex2 1 0.08 43. Login to comment