Mutation Details for c.149C>A

cDNA Name c.149C>A 
Protein Name p.Ser50Tyr 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name S50Y 
Other Details New missense mutation detected in exon 2 of the CFTR gene. Transversion C to A at position 281 of the CFTR gene was detected in a CBAVD patient by heteroduplex-MDE analysis using the following exon 2 specific primers: 21-5, 5'-CCAAATCTGTATGGAGACCA-3' and 2i-3s, 5'-AGCCACCATACTTGGCTCCT-3'. The change leads to a substitution of tyrosine for serine at position 50 of the polypeptide (S50Y). Except the [delta]F508 mutation and two variants (1898+152A and 1001+11T) no other change was detected by heteroduplex analysis of all CFTR exons in this patient. The S50Y allele was found once among 126 chromosomes from CBAVD patients. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1994-06-21
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was found in a CBAVD patient, carrying deltaF508 on the other allele. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#63) 

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The Database was last updated at Apr 25, 2011