Mutation Details for c.1601C>A

cDNA Name c.1601C>A 
Protein Name p.Ala534Glu 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name A534E 
Other Details A nucleotide change, C->A at position 1733, was detected by DGGE and direct sequencing leading to A534E in exon 11. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Mercier B, Guillermit H   1992-06-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient. (pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011