Mutation Details for c.1909C>T
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cDNA Name
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c.1909C>T
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Protein Name
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p.Gln637X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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Q637X
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Other Details
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The above mutation was discovered by DGGE and identified by direct sequencing. The Q637X mutation has been found once in 130 CF chromosomes from the Portuguese population. The patient carries the deltaF508 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,
Barreto C,
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 mutation was found in a 20 years old male patient diagnosed at 10 months of age carrying deltaF508 on the other allele. He was PI, had severe lung disease, positive sweat chloride, liver disease and diabetes melitus.(pers. corr. Pacheco)
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Reference
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Pacheco et al. 1999
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