Mutation Details for c.1666A>G
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cDNA Name
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c.1666A>G
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Protein Name
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p.Ile556Val
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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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I556V
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Other Details
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This mutation was identified by direct sequencing; it is a point mutation A->G at nucleotide 1798, leading to a change from Isoleucine to Valine at position 556, a residue conserved between mouse and human CFTRs. The anomaly (I556L) was found once in an adult French patient with chronic bronchitis. No sequence variation has been found so far on his other chromosome.
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Contributors
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Ghanem N,
Costes B,
Martin J,
Goossens
1992-08-12
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Institute
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Centre Hospitalier Universitaire Henri Mondor
Paris, Franc
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Submitted Phenotype Details
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The male patient (45 year-old) carries R31C on the other allele. He was diagnosed in childhood, being PS, with moderate pulmonary symptoms and positive sweat chloride; he is not infertile. The mutation was found in one additional patient with CBAVD. (pers. corr. Girodon)
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Reference
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Ghanem et al. (NL#50)
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