Mutation Details for c.3461A>G

cDNA Name c.3461A>G 
Protein Name p.Asp1154Gly 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name D1154G 
Other Details A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is A to G change at nucleotide 3593 in exon 18 which would lead to an aspartic acid to glycine replacement in the protein sequence at residue 1154 (D1154G). This mutation has been found in an infertile man with CBAVD carrying the [delta]F508 mutation on the other allele. 
Contributors Costes B, Girodon E, Ghanem N, Goossens M   1994-10-24
Institute Institut National de la Sante et de la Recherche Medicale France 
Submitted Phenotype Details D1154G was found in a 47y old male with CBAVD, also carrying deltaF508 on the other allele. He was diagnosed at 37y, is PS, had negative sweat chloride. (pers. corr. Girodon) 
Reference Costes et al. (NL#64) 

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The Database was last updated at Apr 25, 2011