Mutation Details for c.1654C>T
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cDNA Name
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c.1654C>T
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Protein Name
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p.Gln552X
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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Q552X
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Other Details
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This nonsense mutation was detected in an Italian PI patient through DGGE screening and direct sequencing. The nucleotide change is C1786->% and generates a Gln to Stop substitution in codon 552. This transition originates a new recognition site for HpaI starting at nucleotide 1784. The mutation was found in only one out of 108 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,
Telleria JJ,
Devoto M
1990-10-02
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
Istituto Giannina Gaslini
Genova, 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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