ABCMdb

PMID: 15463919

Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23., [PubMed]

Sentences

No. Mutations Sentence Comment

74 ABCC7 p.Arg668Cys ABCC7 p.Glu822* ABCC7 p.Glu822* Example: E822X Nasal epithelial cells are collected as described [6] from individuals with mutation E822X (G>T at 2596), non-CF controls and heterozygotes for the polymorphism R668C, and mRNA extracted. Login to comment 81 ABCC7 p.Glu822* ABCC7 p.Glu822* E822X RNA samples with E822X are reverse-transcribed with an initial primer set spanning exons 13 to 14a. Login to comment 85 ABCC7 p.Glu822* ABCC7 p.Glu822* M.D. Amaral et al. / Journal of Cystic Fibrosis 3 (2004) 17-23 19 E822 (G at 2596, E822X: G>T at 2596) creates a restriction site for Hph1, whereas the mutant transcript remains intact. Login to comment 164 ABCC7 p.Gly576Ala ABCC7 p.Asp565Gly ABCC7 p.Tyr577Phe D565G, G576A and Y577Y induce exon skipping, while Y577F increases the percentage of exon 12 inclusion. Login to comment 169 ABCC7 p.Gly576Ala ABCC7 p.Asp565Gly In particular, two missense mutations, D565G and G576A (previously considered a neutral polymorphism), showed no clear association with loss of protein function or disease phenotype. Login to comment 173 ABCC7 p.Gly576Ala ABCC7 p.Asp565Gly D565G and G576A induce variable levels of exon 12 skipping, thus reducing levels of normal transcripts. Login to comment 174 ABCC7 p.Tyr577Phe Another missense mutation, Y577F, reported in a patient with severe CF [23], increased the amount of transcript with this exon in comparison to non-CF controls (Fig. 1c), suggesting that this amino acid substitution was directly responsible for the severe phenotype. Login to comment