Mutation Details for c.1736A>G

cDNA Name c.1736A>G 
Protein Name p.Asp579Gly 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name D579G 
Other Details This missense mutation has been detected in an Italian patient through DGGE and direct sequencing. The mutation generates an Asp to Gly substitution (D579G) and creates a novel AvrII restriction site in the mutated allele. This mutation has been detected in a PS patient (maternal chromosome), associated with haplotype C; the paternal CF chromosome carries the [delta]F508 mutation. This mutation was found in one of 78 non-[delta]F508 Italian CF chromosomes and was not found in 32 normal chromosomes. 
Contributors Bordoni R, Belloni E, Cremonesi L   1993-02-22
Institute Istituto di Ricovero e Cura a Carattere Scientifico 
Phenotype Information CFTR2
Reference Ferrari et al. (NL#53) 

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The Database was last updated at Apr 25, 2011