Mutation Details for c.472A>C
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cDNA Name
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c.472A>C
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Protein Name
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p.Ser158Arg
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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S158R
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Other Details
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This substitution involves a residue conserved among species and is located in an intracellular loop of the CFTR protein and affects its charge. We report it as a putative mutation. It was found in a CBAVD patient. No other mutation was detected after analysis of 19 coding regions by DGGE analysis and screening for 3849+10kbC>T and 1811+1.6kbA>G (5 coding regions and splice remain to be analysed).
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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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S158R was found in a 38y M diagnosed at 30y with CBAVD. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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