Mutation Details for c.1355A>C
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cDNA Name
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c.1355A>C
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Protein Name
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p.Gln452Pro
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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Q452P
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Other Details
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This putative mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France heterozygous for [delta]F508. No parental DNA was available at the time to determine phase of the two mutations. The new sequence creates a AvaII site.
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Contributors
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Claustres M,
Guittard C,
Des George M,
Carles S
1997-12-01
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Institute
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Institut de Biologie,
Montpellier, France
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Submitted Phenotype Details
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Patient (M) is 19y, has PI, moderate lung disease and positive sweat-chloride test.
DeltaF508 was found on the other allele.
(pers. corr. Claustres)
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Reference
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Claustres et al. (NL#70)
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