Mutation Details for c.3764C>T

cDNA Name c.3764C>T 
Protein Name p.Ser1255Leu 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name S1255L 
Other Details The missense mutation was detected by DGGE and identified by direct sequencing. The mutation S1255L (C->T at 3896) is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. Two other CF mutations have been identified at the same codon 
Contributors Bienvenu T, Bousquet S, Beldjord C   1996-12-12
Institute Laboratoire de Biochimie & Génétique Moléculaire Paris, France 
Submitted Phenotype Details One patient (female, 75) was diagnosed at 70y, due to recurrent cough, bronchiectasis and mild lung involvment. sweat chloride 106 mmol/l. In the same patient a novel polymorphism was observed - L49L.(pers. corr. Bienvenu and Cartault et all, Letter to the editor, Clin.Gen. 1998) 
Reference Bienvenu et al. (NL#69) 

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The Database was last updated at Apr 25, 2011