Mutation Details for c.137C>A

cDNA Name c.137C>A 
Protein Name p.Ala46Asp 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name A46D 
Other Details A novel missense mutation was identified by DGGE in exon 2 of the CFTR gene and confirmed by direct sequencing of assymetric PCR template and by ASO hybridization. The nucleotide change C->A at position 269 leads to mutation A46D in exon 2, which is a substitution of Alanine (GCT) for Aspartic Acid (GAT) at codon 46, (substitution of non-polar for polar aa). The above mutation was identified in 2 Greek CF chromosomes out of a total of 368 tested. Concerning the phenotype of the two patients, one is PI (621+1G->T/A46D) and the other is PS (G542X/A46D), but they both have severe pulmonary invovlement and otherwise typical clinical expression denoting that the new mutation is rather severe. 
Contributors Andoniadi T, Tzetis M, Synodinos-Traeger J, Kanavakis M   1994-11-09
Institute St. Sophia's Children's Hospital Athens, Greece 
Submitted Phenotype Details This mutation was found in two patients. 1. Patient (F) is 18y, has PS, FEV1=58%, sweat-chloride levels of 80mEq/l and Pseudomonas infections. G542X was found on the other allele. 2. Patient (F) is 30y, has PI, FEV1=92.5, sweat-chloride levels of 92.5mEq/l and Pseudomonas infections. 621+1G>T was founf on the other allele. (Pers. corr. Tzetis) 
Reference Andoniadi et al. (NL#64) 

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The Database was last updated at Apr 25, 2011