Mutation Details for c.91C>T
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cDNA Name
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c.91C>T
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Protein Name
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p.Arg31Cys
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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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R31C
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Other Details
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This missens mutation (in the CFTR gene) had a nucleotide change of C to T at position 223 in exon 2 leading to a cysteine for arginine substitution at codon 31 (R31C). The substitution has been found in a 35 years old man having an atypical form of CF.
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Contributors
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Costes B,
Ghanem N,
Goossens M
1993-06-25
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Phenotype Information
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CFTR2
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Reference
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Costes et al. (NL #56)
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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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