Mutation Details for c.28A>C

cDNA Name c.28A>C 
Protein Name p.Ser10Arg 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name S10R 
Other Details S10R, a change of a neutral amino acid for a basic one, was found in one 4 year old boy, PI, with moderate pulmonary disease. R117H is also found on the S10R allele, with [delta]F508 on the other chromosome. The latter 3 mutations were found once on 174 non-[delta]F508 chromosomes. 
Contributors Hughes D, Hill A, Graham   1995-01-18
Institute Belfast City Hospital Northern Ireland 
Submitted Phenotype Details  
Reference Hughes et al. (NL # 65) 

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The Database was last updated at Apr 25, 2011