Mutation Details for c.1766G>T
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cDNA Name
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c.1766G>T
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Protein Name
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p.Ser589Ile
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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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S589I
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing. The mutation was found in a CF patient who is also heterozygous for [delta]F508 and G576A (phase yet to be established). The DGGE primers were generously supplied by Prof Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened, in this patient referred by the East Anglican Regional Genetics Service at Cambridge (UK).
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Contributors
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Schwarz M,
Andrew N,
Malone G
1999-07-27
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Institute
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Royal Manchester Children's Hospital
England
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Submitted Phenotype Details
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The mutation was identified in cis with G576A and R668C in a female CF patient carrying deltaF508 on the other allele.(pers.corr. Schwarz)
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Reference
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Schwarz et al. 1999
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