Mutation Details for c.1656delA
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cDNA Name
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c.1656delA
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Protein Name
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p.Gln552HisfsX7
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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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1787delA
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Other Details
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The above mutation was discovered by DGGE and identified by direct sequencing. This mutation has been found once in 353 non-[delta]F508 CF chromosomes from the Portuguese population. The patient carries the G551D on the other chromosome and presented with severe lung disease, PI and positive sweat tests.
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Contributors
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Pacheco P,
Costa M,
Loureiro P,
Lavinha J
1999-06-02
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Institute
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Instituto Nacional de Saúde
Lisboa, Portugal
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Submitted Phenotype Details
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The patient (male, 2 years old) was diagnosed at 3 months of age. He is PI, has positive sweat chloride and severe lung disease. (pers. corr. Pacheco)
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Reference
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Pacheco et al. 1999
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