Mutation Details for c.2175_2176insA

cDNA Name c.2175_2176insA 
Protein Name p.Glu726ArgfsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2307insA 
Other Details As a result of the frameshift, two consecutive in frame stop codons (both TGA) are encountered withiin five codons of the insertion site. The mutation was originally detected by chemical msmatch cleavage and subsequent sequencing. The mutation destroys and MboII restriction site and can be detected by an MboII digest. The mutation was detected in a Black CF patient. This patient is homozygous for the insertion, has clasic CF and is pancreatic insufficient. The insertion mutation was not detected in 26 normal chromsomes nor in 32 non-[delta]F508 CF chromosomes. 
Contributors Smit L, Iannuzzi M, Tsui LC, Collins F   1991-03-08
Institute Howard Hughes Medical Institute Ann Arbor, MI, USA 
Phenotype Information CFTR2
Reference Smit et al. 1993 

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The Database was last updated at Apr 25, 2011