Mutation Details for c.1798A>G
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cDNA Name
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c.1798A>G
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Protein Name
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p.Arg600Gly
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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R600G
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing. R600G is not found in 100 other non-[delta]F508 CF chromosomes and 100 non CF chromosomes tested. The mutation destroys an Mael site. It was found in a CF female patient, currently 43 years of age. The patient presents a classical form of CF with pancreatic sufficiency.
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Contributors
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Bienvenu T,
Bousquet S,
Vidaud D,
Keyeux G,
Beldjord C
1997-06-13
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Institute
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Laboratoire de Biochimie Génétique,
Pavillon Cassini,
Paris, France
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Submitted Phenotype Details
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One patient (female, 48y) diagnosed at 24years with CF, is PI, has FEV1=30% and sweat chloride 108mmol/l. 125G/C on the other allele.(pers.corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#69)
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