Mutation Details for c.1538A>G

cDNA Name c.1538A>G 
Protein Name p.Asp513Gly 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name D513G 
Other Details This mutation was detected by DGGE and identified by direct sequencing. It is not found in 200 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. The mutation creates an HphI site. It was fond in a CBAVD patient. He carries a [delta]F508 on the other chromosome. 
Contributors Bienvenu T, Bousquet S, Vidaud D, Beldjord C   1997-08-29
Institute Groupe Hospitalier Cochin, Paris, France 
Submitted Phenotype Details One patient (male,27), diagnosed at 26 years with CBAVD, is PS, has normal lung function and sweat chloride 87 mmol/l. He carries delF508 on the other allele. (Bienvenu et all 1998 and pers.corr.Bienvenu)  
Reference Bienvenu et al. (NL#70) 

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The Database was last updated at Apr 25, 2011