Mutation Details for c.4252G>T
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cDNA Name
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c.4252G>T
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Protein Name
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p.Glu1418X
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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E1418X
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Other Details
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E1418X is predicted to generate a mutant protein truncated of 63 residues. Analysis of the literature suggest a severe deleterious effect of truncated mutations with removal of more than 50 C terminal CFTR residues. This is in accordance with the description of phenotypes associated with C-terminal mutations in the CF mutation data base.
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Contributors
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E. Girodon, C. Costa, I. Sermet*, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
* Paediatrics, Hpital Necker-Enfants-Malades, Paris, France
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Submitted Phenotype Details
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This mutation was identified in compound heterozygosity with F508del in a CF neonate who had elevated IRT. Sweat chloride value: 120 mEq/l. The girl is still pancreatic sufficient.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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