Mutation Details for c.4015C>T
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cDNA Name
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c.4015C>T
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Protein Name
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p.Leu1339Phe
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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L1339F
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Other Details
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Although this substitution is rather conservative, it involves a residue conserved among species. It was found in a CBAVD patient heterozygous for ^ÐF508, but chromosome assignment was not possible. No other anomaly has been detected after scanning of almost all the CFTR coding regions and screening for 3849+10kbC->T and 1811+1.6kbA->G.
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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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L1339F was found in a male CBAVD patient also carrying 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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