Mutation Details for c.3731G>A
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cDNA Name
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c.3731G>A
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Protein Name
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p.Gly1244Glu
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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G1244E
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Other Details
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This missense mutation was detected in an Italian PI patient through DGGE screening and direct sequencing. The nucleotide changeis G3863-A and generates a Gly to Glu substitution in codon 1244. As a result the recognition site for MboII starting at nucleotide 3863 is destroyed. The mutation was found only once out of 110 non-[delta]F508 Italian CF chromosomes analyzed in Paris by the DGGE technique and it was not found in 45 non-[delta]F508 CF French chromosomes.
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Contributors
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Goossens M,
Fanen P,
Vidaud M
Romeo G,
Ronchetto P,
Devoto M
1990-08-09
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
Istituto Giannina Gaslini
Genoa, Italy
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Phenotype Information
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CFTR2
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Reference
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Devoto et al. 1991
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