Mutation Details for c.472A>C

cDNA Name c.472A>C 
Protein Name p.Ser158Arg 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name S158R 
Other Details This substitution involves a residue conserved among species and is located in an intracellular loop of the CFTR protein and affects its charge. We report it as a putative mutation. It was found in a CBAVD patient. No other mutation was detected after analysis of 19 coding regions by DGGE analysis and screening for 3849+10kbC>T and 1811+1.6kbA>G (5 coding regions and splice remain to be analysed). 
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 S158R was found in a 38y M diagnosed at 30y with CBAVD. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011