Mutation Details for c.558C>A
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cDNA Name
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c.558C>A
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Protein Name
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p.Asn186Lys
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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N186K
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Other Details
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This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 on the other chromosome. This patient presented a positive sweat test (chloride 88 mmol/l) and DDB. The change destroys an MmeI site.
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Contributors
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Claustres M,
Carles S
1998-08-04
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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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One patient (female) PS, bronchiectasis, sweat chloride of 88 mEq/l.
DelF508 on the other allele.
(pers. corr. Claustres)
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Reference
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Claustres & Carles (NL#70)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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