Mutation Details for c.422C>A

cDNA Name c.422C>A 
Protein Name p.Ala141Asp 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name A141D 
Other Details The above mutation was identified by DGGE and sequencing (direct sequencing and sequencing after cloning) in an Algerian CF patient, with the other mutation being N1303K. 
Contributors Gouya L, Pascaud O, Elion J, Denamur E   1995-02-15
Institute Hôpitaux Robert Debre, Paris, France 
Submitted Phenotype Details (Gouya et all 1997) One algerian patient, female, 14 yrs old, diagnosed at 4, PS, has pulmonary colonisation with Pseudomonas aeruginosa and elevated sweat chloride. 
Reference Gouya et al. (NL#65) 

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The Database was last updated at Apr 25, 2011