Mutation Details for c.323C>T
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cDNA Name
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c.323C>T
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Protein Name
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p.Ser108Phe
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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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S108F
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Other Details
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This mutation was identified by direct DNA sequencing with an automatic ABI 373A sequencer and is a single base substitution from C to T at position 455 of the CFTR gene. We have detected this mutation by SSCP analysis once in 25 non-[delta]F508 chromosomes.
The patient is a 19 year old German young man. He carries a [delta]F508 mutation at his other CF chromosome.
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Contributors
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Seydewitz HH,
Witt I,
Muller H
1994-02-22
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Institute
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Albert-Ludwigs-Universitat
Freiburg
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Submitted Phenotype Details
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The patient is 19 (male), diagnosed at 19, PS, with mild pulmonary disease (FEV1 75%), bronchiectasis, sweat chloride 118 mEq/l.
DelF508 on the other allele.
(pers. corr. Seydewitz)
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Reference
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Seydewitz et al. 1995
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