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
X
ABCC7 p.Arg668Cys 15463919:74:176
status: NEW
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ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 15463919:74:9
status: NEW
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ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 15463919:74:100
status: NEW
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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*
X
ABCC7 p.Glu822* 15463919:81:0
status: NEW
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ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 15463919:81:23
status: NEW
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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*
X
ABCC7 p.Glu822* 15463919:85:17
status: NEW
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ABCC7 p.Glu822*
X
ABCC7 p.Glu822* 15463919:85:84
status: NEW
view ABCC7 p.Glu822* details
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
X
ABCC7 p.Gly576Ala 15463919:164:7
status: NEW
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ABCC7 p.Asp565Gly
X
ABCC7 p.Asp565Gly 15463919:164:0
status: NEW
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ABCC7 p.Tyr577Phe
X
ABCC7 p.Tyr577Phe 15463919:164:51
status: NEW
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D565G, G576A and Y577Y induce exon skipping, while Y577F increases the percentage of exon 12 inclusion. Login to comment
169 ABCC7 p.Gly576Ala
X
ABCC7 p.Gly576Ala 15463919:169:49
status: NEW
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ABCC7 p.Asp565Gly
X
ABCC7 p.Asp565Gly 15463919:169:39
status: NEW
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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
X
ABCC7 p.Gly576Ala 15463919:173:10
status: NEW
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ABCC7 p.Asp565Gly
X
ABCC7 p.Asp565Gly 15463919:173:0
status: NEW
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D565G and G576A induce variable levels of exon 12 skipping, thus reducing levels of normal transcripts. Login to comment
174 ABCC7 p.Tyr577Phe
X
ABCC7 p.Tyr577Phe 15463919:174:27
status: NEW
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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