Mutation Details for c.2600T>A
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cDNA Name
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c.2600T>A
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Protein Name
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p.Leu867X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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L867X
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Other Details
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The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found in a Scottish CF patient whose other mutation is [delta]F508 and who was referred from the Duncan Guthrie Institute of Medical Genetics, Glasgow. We have seen L867X only once in over 100 non-[delta]F508 chromosomes screened. 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.
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Contributors
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Haworth A,
Malone G,
Schwarz M
1996-12-16
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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 patient (male) was born in July 1970. He carries DelF508 on the other allele.
(pers.corr.Schwarz)
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Reference
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Haworth et al. (NL#69)
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