Mutation Details for c.2260G>A

cDNA Name c.2260G>A 
Protein Name p.Val754Met 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name V754M 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. V754M was observed in a 14 year old male clinically affected by CF and referred from the Liverpool DNA lab by Roger Mountford. His sweat tests are positive although his respiratory involvement is very mild. His other mutation is G542X. V754M creates a novel NlaIII site. 
Contributors Wallace AJ   1996-06-21
Institute Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK. 
Phenotype Information CFTR2
Reference Wallace (NL#69) 

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The Database was last updated at Apr 25, 2011