Mutation Details for c.489+3A>G

cDNA Name c.489+3A>G 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 621+3A->G 
Other Details The mutation was detected by DGGE and direct sequencing. 621+3A>G was detected in 4/250CF patients (0.8%), all 4 of Greek origin. Three of the patents had mutation [delta]F508 in trans and one had mutation 1898+1G>T in trans. All four patients are PI. The mutation was first reported by Ferrie RM, Silver A, Little S, Beards F, Mathew C in 1991 as a polymorphism. This mutation has been identified in one individual presenting at a pilot CF carrier screening program. No experimental evidence as to whether this substitution affects authentic splicing of the gene was available at that time.  
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1998-02-02
Institute St. Sophia's Children's Hospital, Athens, Greece 
Submitted Phenotype Details The mutation was identified in several patients aged 2-18 years, 4 females and 1 male, all diagnosed in infancy, one diagnosed at birth with meconium ileus, 4 PI and one PS, all with mild respiratory symptoms (FEV1 greater than 73%) and sweat chloride greater than 82%. All have chronic cough and bacterial lung colonization (Pseudomonas Aeruginosa, Staph. Aureus, Klebsiella, Haemophilus). On the other chromosome deltaF508 was found in 3 patients, 1898+1G->T and W1282X in the other 2. (pers. corr. Tzetis and Tzetis et al. 2001) 
Reference Tzetis et al. (NL#70) 

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The Database was last updated at Apr 25, 2011