Mutation Details for c.451C>A

cDNA Name c.451C>A 
Protein Name p.Gln151Lys 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Q151K 
Other Details Segregation analysis was not performed. Except F508del, no other mutation was found after extensive analysis of the CFTR coding regions. Biochemical and phylogenic inspection of the amino-acid change suggest a possible deleterious effect. 
Contributors E. Girodon, C. Costa, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details This mutation was identified at the heterozygous state in a CBAVD patient who carries F508del. 

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The Database was last updated at Apr 25, 2011