Mutation Details for c.1736A>C
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cDNA Name
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c.1736A>C
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Protein Name
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p.Asp579Ala
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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D579A
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Other Details
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The above mutation was discovered by DGGE and identified by direct sequencing. The D579A mutation has been found once in 197 non-[delta]F508 chromosomes from the Portuguese population. This mutation was found neither in 94 normal chromosomes nor in 76 with an identified CF mutation. The patient carries N1303K on the other chromosome and presented with severe lung disease and positive sweat tests.
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Contributors
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Pacheco P,
Costa M,
Loureiro P,
Lavinha J
1998-06-21
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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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Patient (F) is 7y, has PI, sever lung disease (FEV1=59%) and positive sweat-chloride levels.
N1303K was found on the other allele.
(Pers. corr. Pacheco)
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Reference
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Pacheco et al. (NL#70)
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