Mutation Details for c.164G>A
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cDNA Name
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c.164G>A
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Protein Name
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p.Arg55Lys
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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R55K
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Other Details
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The R55K mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. The other mutation was not found, while we analyzed the 27 exons by DGGE or DHPLC. No exonic deletion was found by MLPA.
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Contributors
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Pasquet M.C., Baudis M, Creveaux I., Kitzis A.
2006-01-12
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Institute
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Laboratoire de Genetique Cellulaire et Moleculaire, CHU de Poitiers, France
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Submitted Phenotype Details
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The patient, 42 years old, suffers from bronchitis and presents 4 abnormal sweet tests. The other mutation was not found.
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Reference
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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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