Mutation Details for c.1558G>T

cDNA Name c.1558G>T 
Protein Name p.Val520Phe 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name V520F 
Other Details Using the chemical cleavage technique and direct sequencing, a G to T transversion has been demonstrated, changing a valine residue to phenylalanine. Although not a strongly conserved residue, we believe that the substitution of an aromatic for an alpiphatic amino-acid may be of consequence. V520F has been found on 2 out of 26 CF chromosomes with unknown mutations. In both cases on the B haplotype.  
Contributors Jones C, McIntosh I, Brock D   1990-08-09
Institute University of Edinburgh Edinburgh, Scotland 
Phenotype Information CFTR2
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.

  • Axton RA, Brock DJ   A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.   1995;5(3):260-2
  • 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
  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P   Genetic determination of exocrine pancreatic function in cystic fibrosis.   1992 006;50(6):1178-84
  • Maldonado-Rodriguez R, Espinosa-Lara M, Calixto-Suarez A, Beattie WG, Beattie KL   Hybridization of glass-tethered oligonucleotide probes to target strands preannealed with labeled auxiliary oligonucleotides.   1999 002;11(1):1-12

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The Database was last updated at Apr 25, 2011