Mutation Details for c.1676C>A
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cDNA Name
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c.1676C>A
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Protein Name
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p.Ala559Glu
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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A559E
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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 CF patient carrying [delta]508 on the other chromosome, and presenting with a severe classical form.
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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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A559E was found in a 22y F, diagnosed at 16y, PI, with moderate-severe lung disease and discordant sweat chloride and nasal polyposis. She 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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