Mutation Details for c.2255T>G
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cDNA Name
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c.2255T>G
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Protein Name
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p.Ile752Ser
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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I752S
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Other Details
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The patient also carries D110H at the heterozygous state but the segregation has not been performed. No other mutation has been detected after extensive CFTR gene study. Biochemical and phylogenic inspection of the amino-acid change are in favor of a polymorphism. However, we cannot rule out a mild deleterious effect which can account for the atypical phenotype.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2004-10-06
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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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This mutation was identified at the heterozygous state in a 13 yrs old Turkish patient having atypical chronic rhino-sinusitis and nasal polyposis. There is no other sign suggestive for CF.
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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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