Mutation Details for c.926C>A

cDNA Name c.926C>A 
Protein Name p.Ala309Asp 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name A309D 
Other Details The mutation is the C1058A substitution in exon 7, changing alanine 309 to aspartic acid. This mutation has been detected in the maternal CF chromosome of a PS patient originating from Southern Italy (Sicily) and carrying the [delta]F508 mutation on the other chromosome. 
Contributors Ferrari M, Seia M, Russo S, Corbetta C   1994-11-22
Institute Instituto di Ricovero e cura a Carattere Scientifico 
Submitted Phenotype Details The patient (8y, male) was diagnosed at 1y and 3m, is PS, has sweat chloride of 43-64 mmol/l and mild pulmonary disease (FEV1=93%)and neonatal hypertrypsinaemia, coeliac disease, allergy to food. DelF508 on the other allele. (pers. corr. Cremonesi)  
Reference Ferrari et al. (NL#64) 

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The Database was last updated at Apr 25, 2011