Mutation Details for c.550delC

cDNA Name c.550delC 
Protein Name p.Leu184PhefsX5 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name 681delC 
Other Details This mutation was detected by SSCP analysis of DNA amplified by PCR using the following primers: 5i-5s; 5'-CCTGAGAAGATAGTAAGCTAG-3' and 51-3; 5'-AACTCCGCCTTTCCAGTTGT-3' (315bp fragment). This frameshift creates termination codon (TAG) at the fifth triplet from the site of deletion. The deletion does not create or destry any restriction site. The mutation was found in one among 272 CF chromosomes (186 non-[delta]F508 chromosomes). The mutation on the other chromosomes of the patient carrying the frameshift is R334W, which has been recognized as a mild allele in our previous studies. This genotype is in agreement with PS status of the patient. 
Contributors Zielinski J, Xia YH, Tsui LC   1992-04-15
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was identified in a male patient, 4y, diagnosed at 6 months of age, PS, with mild pulmonary symptoms and sweat chloride 104-131 mmol/l. He also carries R334W on the other allele.(Zielenski et al. 1995 and pers. corr. Zielenski) 
Reference Zielenski et al. 1995 

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Literature referencing this mutation. Sort by: 
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  • Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC   Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1995;5(1):43-7

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The Database was last updated at Apr 25, 2011