Mutation Details for c.1682C>A

cDNA Name c.1682C>A 
Protein Name p.Ala561Glu 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name A561E 
Other Details This mutation was detected by DGGE followed by direct sequencing in one out of 53 non-[delta]F508 CF chromosomes of Portugese origin, associated with haplotype A. A561E was found neither in 28 normal chromosomes nor in 25 [delta]F508 CF chromosomes. The patient, a 17 year old girl who is a compound heterozygote for A561E and [delta]F508, presented at the age of 3 with both pulmonary and gastric symptoms. However, she has developed a mild/moderate CF phenotype. 
Contributors Duarte A, Barreto C, Lavinha J   1993-05-04
Institute Instituto Nacional de Saude Portugal 
Submitted Phenotype Details Patient (M) is 9y, has PI, moderate lung disease (FEV1=71%) and positive sweat-chloride tests. DeltaF508 was found on the other allele. (Pers. corr. Pacheco) 
Reference Duarte et al. (NL#55) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011