Mutation Details for c.1736A>C

cDNA Name c.1736A>C 
Protein Name p.Asp579Ala 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name D579A 
Other Details The above mutation was discovered by DGGE and identified by direct sequencing. The D579A mutation has been found once in 197 non-[delta]F508 chromosomes from the Portuguese population. This mutation was found neither in 94 normal chromosomes nor in 76 with an identified CF mutation. The patient carries N1303K on the other chromosome and presented with severe lung disease and positive sweat tests.  
Contributors Pacheco P, Costa M, Loureiro P, Lavinha J   1998-06-21
Institute Instituto Nacional de Sa├║de, Lisboa, Portugal 
Submitted Phenotype Details Patient (F) is 7y, has PI, sever lung disease (FEV1=59%) and positive sweat-chloride levels. N1303K was found on the other allele. (Pers. corr. Pacheco) 
Reference Pacheco et al. (NL#70) 

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The Database was last updated at Apr 25, 2011