Mutation Details for c.3905A>G
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cDNA Name
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c.3905A>G
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Protein Name
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p.Lys1302Arg
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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K1302R
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Other Details
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This mutation was identified in the partner of a CF patient. The individual carries S1235R on the other chromosome. Although residue K1302 is well conserved among species, there are arguments against a serious deleterious effect of the K1302R mutation: both Lys and Arg residues are basic; these residues are alternatively present at several positions of the CFTR protein, depending on species.
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Contributors
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E. Girodon, C. Costa, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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Healthy individual.
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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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