Mutation Details for c.1367T>C

cDNA Name c.1367T>C 
Protein Name p.Val456Ala 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name V456A 
Other Details This mutation creates a BbvI restriction site. The amino acid substitution appears not drastic. Besides, the residue 456 is not conserved among species. It is thus likely that this variation is rather a polymorphim than a mutation. It was found in a CBAVD patient heterozygous for -895T/G. No other mutation has been detected after complete analysis of the coding sequence by DGGE analysis, and screening for 3849+10kbC>T. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details V456A was found in a male patient also carrying 1342-6(5T) on the other allele. He is PS and was diagnosed with CBAVD. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011