Mutation Details for c.3382A>T

cDNA Name c.3382A>T 
Protein Name p.Arg1128X 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name R1128X 
Other Details R1128X was found during a pregnancy in a fetus suspected of having CF according to anomalies observed by scan. The nucleotide substitution creates a FokI site and abolishes a EarI site. The other mutation was [delta]F508. 
Contributors Ghanem N, Girodon E, Flori J, Goossens M   1996-03-22
Institute Hopital Henri Mondor, Creteil, France 
Submitted Phenotype Details The R1128X mutation was found in a 7 y male CF patient diagnosed at birth, also carrying deltaF508 on the other allele. 1additional patient, genotype R1128X/W1098X, is PI and has severe lung disease. (pers. corr. Girodon)  
Reference Ghanem et al. (NL#68) 

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The Database was last updated at Apr 25, 2011