Mutation Details for c.3873G>C

cDNA Name c.3873G>C 
Protein Name p.Gln1291His 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name Q1291H 
Other Details Using the chemical cleavage techniwue and direct sequencing, we have identified a substitution of C for G at position 4005 of CFTR. Since this is a fairly conservative change, and the amino acid at his position is not well conserved bewteen related ABC genes, we do not believe that this alone results in a mutation of CFTR. It has not been possible to confirm CF in the family where this mutation was identified because the affected child has severe eczema preventing a sweat test being preformed. Recurrent chest infections and a arequirement for Creon tablets have been taken as indicative of CF. No other CF mutation has been identified. An older sibling also carries Q1291H, is genotypically identical at all flanking markers and has had a normal sweat test. 
Contributors McIntosh I, Shrimpton T, Jones C, Brock D   1990-07-30
Institute University of Edinburgh Edinburgh, Scotland 
Submitted Phenotype Details  
Reference Jones 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.

  • Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ   Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.   1992 004;1(1):11-7

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The Database was last updated at Apr 25, 2011