Mutation Details for c.1420G>A
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cDNA Name
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c.1420G>A
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Protein Name
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p.Glu474Lys
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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E474K
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Other Details
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This substitution involves a residue conserved among species and affects the charge of the CFTR protein. It was found in a young female carrying ^ÐF508 on the other chromosome. She had a sister deceased of CF in adulthood (decompensation of CF was observed after a pregnancy). She was healthy but had a positive sweat test. No other mutation was detected after complete analysis of the coding sequence by DGGE analysis, and screening for 3849+10kbC>T and and 1811+1.6kbA>G. Although analysis of the index case was not possible, we report it as a putative mutation and consider here another possible case of disease variability.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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E474K was found in a 33y female diagnosed at 28y, PS, with no lung disease and positive sweat chloride. She also carries deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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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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