Mutation Details for c.4333G>A

cDNA Name c.4333G>A 
Protein Name p.Asp1445Asn 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name D1445N 
Other Details Consequence: Missence mutation. The G to A substitution at nucleotide 4465 results in the replacement of Aspartic acid for Asparagine at amino acid 1445. The mutation has not been found in 56 normal chromosomes screened. Frequency: 0.2% (1/500 chromosomes) Patient data: Genotype: D1445N/Unknown The trans mutation of the patient remains unknown although he has been screened for all the exons and intron-exon boundaries. Age at diagnosis: 2 yrs Current age: 16 yrs Chloride sweat test: 110mEq/L He is pancreatic insufficient and has chronic cough. 
Contributors Antoniadi T, Tzetis M, Kanavakis E   1996-10-07
Institute Athens University, First Dept of Pediatrics, Unit of Molecular Medicine St. Sophias Children Hospital Athens, Greece. 
Submitted Phenotype Details Patient (M) is 21y, has PI, mild lung disease (with chronic cough) and sweat-chloride levels of 110mEq/l. The other mutation is unknown. (Pers. corr. Tzetis) 
Reference Antoniadi et al. (NL#69) 

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