Mutation Details for c.3764C>T
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cDNA Name
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c.3764C>T
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Protein Name
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p.Ser1255Leu
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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S1255L
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Other Details
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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
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Contributors
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Bienvenu T,
Bousquet S,
Beldjord C
1996-12-12
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Institute
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Laboratoire de Biochimie & Génétique Moléculaire
Paris, France
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Submitted Phenotype Details
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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)
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Reference
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Bienvenu et al. (NL#69)
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