Mutation Details for c.2989-2A>G

cDNA Name c.2989-2A>G 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 3121-2A->G 
Other Details The 3121-2 A->G mutation was detected in a homozygous state in one Japanese CF patient out of 6 Asian CF chromosomes screened. The A->G change disrupts the almost invariant AG sequence of the splice accpetor site and most likely causes abnormal splicing. Since the loss of exon 17a will alter reading frame and introduce a premature termination signal; we presume that this mutation is disease causing. The mutation has not been observed by DGGE on 50 African-American or 78 US-Caucasian CF chromosomes. The patient's family lives on Okinawa and family history did not reveal any Caucasian admixture in both family branches. The patients repeated sweat chlorides were 113, 125 and 129 mmol/l. No other clinical information is available to us. 
Contributors Macek MJr, Mackova A, Sedrick SE, Cutting GR   1993-12-06
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details The homozygous patient (female) has sweat chloride 129 mmol/l. (pers. corr. Macek) 
Reference Macek et al. (NL#60) 

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The Database was last updated at Apr 25, 2011