Mutation Details for c.3241G>C
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cDNA Name
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c.3241G>C
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Protein Name
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p.Ala1081Pro
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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A1081P
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Other Details
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This sequence variation was detected by DGGE and identified by direct sequencing. This missense mutation A1081P (G->C at position 3373) was not found in 100 other non-[delta]F508 CF chromosomes and 500 non-CF chromosomes tested.
It was observed in a male laotian subject with congenital bilateral absence of the vas deferens. The chloride sweat test was normal (18 nM). The other mutation is the 5T variant.
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Contributors
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Bienvenu T,
Ngukam A,
Jacquemont M L,
Souville I,
Viel M,
Beldjord C
2001-07-10
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Institute
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Institut Cochin de Genetique Moleculaire
France
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Submitted Phenotype Details
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One patient (38, male) diagnosed at 36 with CBAVD, is PS, has mild pulmonary disease, normal sweat chloride (18mmol/l). He carries the 5T variant mutation on the other allele. (pers.corr. Bienvenu)
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Reference
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Bienvenu et al. 2001
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