Mutation Details for c.3241G>C

cDNA Name c.3241G>C 
Protein Name p.Ala1081Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name A1081P 
Other Details 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. 
Contributors Bienvenu T, Ngukam A, Jacquemont M L, Souville I, Viel M, Beldjord C   2001-07-10
Institute Institut Cochin de Genetique Moleculaire France 
Submitted Phenotype Details 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) 
Reference Bienvenu et al. 2001 

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The Database was last updated at Apr 25, 2011