Mutation Details for c.526delA
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cDNA Name
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c.526delA
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Protein Name
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p.Ser176ValfsX13
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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657delA
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Other Details
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The above mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found on the same chromosome carrying 406-6T->C, in a male CF patient whose other mutation is 1154insTC. 657delA was seen only once in over 200 non-[delta]F508 chromosomes screened. The DGGE primers were supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy.
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Contributors
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Malone G,
Hawworth A,
Schwarz M
1995-10-11
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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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One CF patient (male, born in 1987)diagnosed at 9m. He has severe lung disease and sweat chloride 79 mmol/l. 1154insTC on the other allele.
(pers.corr. Schwarz)
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Reference
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Malone et al (NL#67)
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