Mutation Details for c.1654C>A

cDNA Name c.1654C>A 
Protein Name p.Gln552Lys 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name Q552K 
Other Details The mutation Q552K was detected by DGGE and direct sequencing in a patient from Brazil (Afro-American origin), he is homozygous for this mutation, with PI and mild lung involvement. 
Contributors Faucz F, Raskin S. Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X.   1996-08-08
Institute Lab. Genetika, Curitiba, Brazil. IRO, Barcelona, Spain. 
Submitted Phenotype Details  
Reference Faucz et al. (NL#69) 

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The Database was last updated at Apr 25, 2011