Mutation Details for c.11C>A
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cDNA Name
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c.11C>A
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Protein Name
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p.Ser4X
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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S4X
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Other Details
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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.
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Contributors
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Glavac D,
Ravnik-Glavac M,
Komel R,
Dean M
1992-05-03
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Institute
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National Institutes of Health
Frederick, MD, USA
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Submitted Phenotype Details
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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)
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Reference
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Glavac et al. 1993
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