Mutation Details for c.4296C>G
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cDNA Name
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c.4296C>G
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Protein Name
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p.Asn1432Lys
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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N1432K
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Other Details
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The C->G substitution at nucleotide 4428 results in the replacement of Asparagine for Lysine at aminoacid 1432. We suggest it is a polymorphism since it was not found among 100 pathological chromosomes screened and found once among 60 normal chromosomes screened. The carrier of N1432K is the mother of a CF patient; she has [delta]F508 in trans, and the chloride sweat test is normal.
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Contributors
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Antoniadi T,
Tzetis M,
Kanavakis E
1996-12-12
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Institute
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Athens University, First Dept of Pediatrics
Unit of Molecular Medicine
St. Sophias Children Hospital
Athens, Greece
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Submitted Phenotype Details
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Reference
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Antoniadi et al. (NL#69)
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