Mutation Details for c.4201G>A

cDNA Name c.4201G>A 
Protein Name p.Glu1401Lys 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name E1401K 
Other Details The new missense mutation in the exon 23 was detected by DGGE and identified by direct sequencing. The mutation was found in an isolated CBAVD patient, carrying [delta]F508 on the other allele. The mutation was not observed in 200 CFTR alleles from 100 healthy fertile males, 20 CF alleles from 10 CF patients and 90 chromosomes from 45 CBAVD patients.  
Contributors Grangeia A., Carvalho F., Fernandes S., Sousa M., Barros A.   2006-04-07
Institute Department of Genetics, Faculty of Medicine of Porto, Portugal 
Submitted Phenotype Details The patient was diagnosed with CBAVD, is PS, no pulmonary disease and negative sweat-chloride test (pers. corr. Grangeia).  

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The Database was last updated at Apr 25, 2011