Mutation Details for c.3424_3425insAGTA
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cDNA Name
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c.3424_3425insAGTA
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Protein Name
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p.Thr1142LysfsX15
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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3556insAGTA
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Other Details
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3556insAGTA results in a duplication of the preceding sequence (AGTAAGTA) and introduced a frameshift which creates a stop codon 15 codons downstream. This mutation has been found once in 59 non-[delta]F508 CF chromosomes from the Portuguese population, associated with haplotype A. The patient carries the [delta]F508 mutation on the other chromosome and presents a severe form of CF. 3556insAGTA was found neither in 28 normal chromosomes nor in 31 [delta]F508 CF chromosomes.
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Contributors
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Duarte A,
Lavinha J,
Barreto C,
Lopez B
1995-01-10
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Institute
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Instituto Nacional de Saude,
Lisboe, Portugal
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Submitted Phenotype Details
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The mutation was identified in a patient carrying deltaF508 on the other allele. (pers corr. Duarte)
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Reference
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Duarte et al. (NL#65)
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