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 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011