Mutation Details for c.1706A>G
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cDNA Name
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c.1706A>G
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Protein Name
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p.Tyr569Cys
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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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Y569C
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Other Details
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The mutation was detected by SSCP analysis, followed by direct sequencing of amplified DNA using the primers 5'-GTGAATCGATGTGGTGACCA-3' and 5'-CTATGATGGGACAGTCTG-3'. It can not be detected by restriction enzyme analysis. The mutation was seen in a girl from the Republic of Croatia, whose other CF chromosome carries the [delta]F508 mutation. The Y569C mutation was not found among 84 CF (17[delta]F508) and among 12 normal chromosomes.
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Contributors
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Plaseska D,
Koceva S,
Efremov GD
1992-04-29
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Institute
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Macedonian Academy of Sciences
Skopje, Republic of Macedonia
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Submitted Phenotype Details
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Reference
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Plaseska et al. (NL#45)
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