Mutation Details for c.3848G>T

cDNA Name c.3848G>T 
Protein Name p.Arg1283Met 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name R1283M 
Other Details The mutation destroys the same Mnl I restriction site as W1282X and consequently some members of the consortium may have to recharacterize their W1282X mutants if they were originally identififed through this digest. R1283M creates a Fok I site and can also be detected using some ASo's . This mutation is present is present in 3 unrelated patients in our population and thus accounts for 0.8% of our chromosomes. Two of the patients are of Welsh descent and the third is of either English or Welsh descent. All three of the individuals have moderate to severe phenotypes. Since this mutation is not present on 51 normal chromosomes nor on 85 [delta]F508 chromosomes, and since it would cause a non-conservative amino acid substituion, we believe that it is a disease causing mutation. 
Contributors Cheadle J, Meredith L   1991-10-23
Institute University of Wales College of Medicine Wales, England 
Submitted Phenotype Details  
Reference Cheadle 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.

  • Cheadle JP, Meredith AL, al-Jader LN   A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.   1992 005;1(2):123-5

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The Database was last updated at Apr 25, 2011