Mutation Details for c.1175T>G
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cDNA Name
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c.1175T>G
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Protein Name
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p.Val392Gly
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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V392G
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Other Details
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This mutation was detected by heteroduplex analysis in one chromosome of 21 year-old East Indian CF patient, whose other CF mutation was unknown. The patient was presented with high sweat chloride (125), pancreatic sufficiency and moderate lung disease (27 July 1997).
This mutation was also reported by Larder et al (5 August 1997) who found the mutation by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in homozygous form in a Pakistani CF patient on one occasion, in over 200 non-[delta]F508 chromosome screened. The patient was referred by the Yorkshire Regional DNA Laboratory at Leeds (UK). The DGGE primers were supplied by Pr. 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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Zielenski J,
Tzountzouris J,
Tsui L-C,
Tullis E
Larder R,
Malone G,
Haworth A,
Schwarz M
1997-07-27
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Institute
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The Hospital for Sick Children, and Wellesley Hospital
Toronto, Canada
Royal Manchester Children's Hospital, England
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Submitted Phenotype Details
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The mutation was found in a CF patient, PS, with moderate lung disease and sweat chloride 125 mmol/l. (pers. corr. Zielenski)
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Reference
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Zielenski et al. Larder et al. (NL#70)
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