Mutation Details for c.1811C>T
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cDNA Name
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c.1811C>T
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Protein Name
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p.Thr604Ile
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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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T604I
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Other Details
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The residue 604, conserved among species, is involved here in a polar to non polar substitution. T604I was found in a male patient having a moderate form of CF with PS, and carrying [delta]F508 on the other chromosome.
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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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T604I was found along with deltaF508 on the other allele in a 35y M diagnosed at 25y, with mild-moderate pulmonary symptoms, PI and positive sweat chloride. He was diagnosed with CBAVD, nasal polyposis. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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