Mutation Details for c.1355A>C

cDNA Name c.1355A>C 
Protein Name p.Gln452Pro 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name Q452P 
Other Details This putative mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France heterozygous for [delta]F508. No parental DNA was available at the time to determine phase of the two mutations. The new sequence creates a AvaII site. 
Contributors Claustres M, Guittard C, Des George M, Carles S   1997-12-01
Institute Institut de Biologie, Montpellier, France 
Submitted Phenotype Details Patient (M) is 19y, has PI, moderate lung disease and positive sweat-chloride test. DeltaF508 was found on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. (NL#70) 

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The Database was last updated at Apr 25, 2011