Mutation Details for c.1721C>A

cDNA Name c.1721C>A 
Protein Name p.Pro574His 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name P574H 
Other Details Although the amino acid pro at this position is not highly conserved across different ATP-binding folds, his seems to be a drastic substitution. This change is not detected in 52 other CF chromosomes nor 15 normal chromosomes, 4 of which have the same group IV haplotype. 
Contributors Kerem B, Zieleski J, Bozon D, Tsui LC   1990-04-29
Institute The Hospital for Sick Children Toronto, ON, Canada 
Submitted Phenotype Details (Sheppard et all 1995) (Kristidis et all 1992) Each one reported a patient with PS 
Reference Kerem et al. 1990 

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The Database was last updated at Apr 25, 2011