Mutation Details for c.1676C>T
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cDNA Name
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c.1676C>T
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Protein Name
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p.Ala559Val
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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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A559V
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Other Details
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The mutation was identified in homozygosity in a 1-year-old Senegalese CF boy. Both parents were found heterozygotes.
The mutation affects a signature motif for the ABC proteins.
No other CFTR mutation was found after extensive screening of the coding regions and screening for large rearrangements.
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Contributors
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E. Girodon, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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Classical CF with chest infections, pancreatic insufficiency, positive sweat test.
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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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