Mutation Details for c.577G>A

cDNA Name c.577G>A 
Protein Name p.Glu193Lys 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name E193K 
Other Details This missense mutation has been detected in an Italian CF patient through DGGE and direct sequencing. This mutation has been detected in a PS patient (maternal chromosome), associated with haplotype C; the paternal chromosome carries the [delta]F508 mutation. This mutation was found in onw out of 29 non-[delta]F508 Italian CF chromosomes and was not found in 11 normal chromosomes. 
Contributors Pappalardo E, Cremonesi L, Ferrari M   1994-04-08
Institute Istituto di Ricovero e Cura a Carattere Scientifico Milano, Italy 
Submitted Phenotype Details The patient (male, 22) was diagnosed at 20 y, sweat chloride 82mmol/l, PS, mild lung disease (chronic bronchitis with chest X-Ray normal). DelF508 on the other allele. (pers.corr. Cremonesi) The mutation was identified in a Italian CF patient (pers.corr.Ferec) 
Reference Ferrari et al. (NL#62); et al. Mercier et al. 1995 

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The Database was last updated at Apr 25, 2011