Mutation Details for c.11C>A

cDNA Name c.11C>A 
Protein Name p.Ser4X 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name S4X 
Other Details The mutation is at position 143 and is a single base subsitution of C for A which leads to a STOP codon (TAG) at fourth amino acid. PCR followed by direct sequencing and was found in one CF patient of Slovenian origin, who is heterozygous for [delta]F508 mutation. The mutation was not found in 13 other [delta]F508 and 35 non-[delta]F508 CF chromosomes. 
Contributors Glavac D, Ravnik-Glavac M, Komel R, Dean M   1992-05-03
Institute National Institutes of Health Frederick, MD, USA 
Submitted Phenotype Details The mutation was identified in a 3-yearold CF patient also carrying delF508 on the other allele, PI, sweat chloride 99.7mEq/l no PA colonisation. (Glavac et al. 1993) The S4X mutation was found in 2 male CF patients, one diagnosed at 3 days of age with meconium ileus, PI, with mild pulmonary symptoms with no PA colonization and sweat chloride 60-90 mmol/l carrying deltaF508 on the other allele and the other diagnosed at 5 months of age carrying 2789+5G>A, PI, with severe lung disease and sweat chloride 70-90mmol/l and PA colonisation. (Desgeorges et al. 1997) 
Reference Glavac et al. 1993 

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The Database was last updated at Apr 25, 2011