Mutation Details for c.1682C>A
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cDNA Name
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c.1682C>A
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Protein Name
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p.Ala561Glu
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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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A561E
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Other Details
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This mutation was detected by DGGE followed by direct sequencing in one out of 53 non-[delta]F508 CF chromosomes of Portugese origin, associated with haplotype A. A561E was found neither in 28 normal chromosomes nor in 25 [delta]F508 CF chromosomes.
The patient, a 17 year old girl who is a compound heterozygote for A561E and [delta]F508, presented at the age of 3 with both pulmonary and gastric symptoms. However, she has developed a mild/moderate CF phenotype.
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Contributors
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Duarte A,
Barreto C,
Lavinha J
1993-05-04
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Institute
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Instituto Nacional de Saude
Portugal
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Submitted Phenotype Details
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Patient (M) is 9y, has PI, moderate lung disease (FEV1=71%) and positive sweat-chloride tests.
DeltaF508 was found on the other allele.
(Pers. corr. Pacheco)
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Reference
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Duarte et al. (NL#55)
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