Mutation Details for c.1798A>G

cDNA Name c.1798A>G 
Protein Name p.Arg600Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R600G 
Other Details 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. 
Contributors Bienvenu T, Bousquet S, Vidaud D, Keyeux G, Beldjord C   1997-06-13
Institute Laboratoire de Biochimie Génétique, Pavillon Cassini, Paris, France 
Submitted Phenotype Details 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) 
Reference Bienvenu et al. (NL#69) 

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The Database was last updated at Apr 25, 2011