Mutation Details for c.313delA

cDNA Name c.313delA 
Protein Name p.Ile105SerfsX2 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 444delA 
Other Details This mutation was found in a single Black patient, and is a deletion of an A residue at nucleotide 444. This mutation destroys a HinfI site and creates a Sau3A site. The patient is homozygous for the I allele of MP6d. The mutation is not found on 3 other Black CF chromosomes or 146 Caucasian CF chromosomes. The mutation is detected with the exon 4 primers. 
Contributors Dean M, Belle White M, Gerrard B, Stewart C   1990-03-02
Institute null 
Submitted Phenotype Details  
Reference White et al. 1991a 

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The Database was last updated at Apr 25, 2011