Mutation Details for c.4196_4197delTC

cDNA Name c.4196_4197delTC 
Protein Name p.Cys1400X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4326delTC 
Other Details A new frameshift mutaion (4326delTC) in exon 23 of the CFTR gene was detected by heteroduplex-MDE analysis of DNA amplified by PCR with exon 23 specific primers (23i-5, 5'-AGCTGATTGTGCGTAACGCT-3' and 23i-3, 5'-TGTCACCATGAAGCAGGCAT-3'). Sequencing analysis showed deletion of TC dinucleotide from TC repeat starting at the nucleotide position 4326. The 4326delTC allele was found once among 192 CF chromosomes screened for mutations in exon 23. Mutation on the other chromosome of the pancreatic insufficient (PI) patient is [delta]F508. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1994-01-11
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was found in 3 siblings heterozygous for deltaF508, 2 females, 1 male, all PI, with mild pulmonary symptoms and sweat chloride >90 mmol/l.(pers. corr. Zielenski) 
Reference Zielenski et al. (NL#61) 

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The Database was last updated at Apr 25, 2011