Mutation Details for c.451C>T

cDNA Name c.451C>T 
Protein Name p.Gln151X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Q151X 
Other Details This mutation was first detected by SSCP analysis and involves a C->T substituion at base 583. This predicts a glutamine to stop mutation at amino acid 151. The mutation is presnt in conjunction with [delta]F508 on the other chromosome in a CF patient of Mexican origin. IT was not found on 77 non-[delta] CF chromosomes. 
Contributors Shackleton S, Harris A   1992-05-11
Institute University of Oxford Oxford, England 
Submitted Phenotype Details The mutation was found in a heterozygous for deltaF508 fetus whose parents are known CF carriers. (pers. corr. Harris) 
Reference Shackleton et al., 1992 

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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.

  • Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A   Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.   1994;3(2):141-51

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The Database was last updated at Apr 25, 2011