Mutation Details for c.1766G>A
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cDNA Name
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c.1766G>A
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Protein Name
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p.Ser589Asn
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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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S589N
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Other Details
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The above mutation was detected by DGGE and characterized by direct sequencing. S586N probably affects RNA splicing. It was found in a male with CF carrying [delta]F508 on the other allele. The change was not observed in 100 other CFTR alleles from 50 unrelated individuals without family history of CF.
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Contributors
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Scheffer H,
Wu Y,
Hofstra R,
Looman M,
Buys C
1996-03-06
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Institute
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University of Groningen,
The Netherlands
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Submitted Phenotype Details
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Reference
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Scheffer et al. (NL#68)
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