Mutation Details for c.1329_1330insAGAT

cDNA Name c.1329_1330insAGAT 
Protein Name p.Ile444ArgfsX3 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1461ins4 
Other Details The change has been detected by SSCP analysis of DNA amplified by PCR using the following primers: 9i-5s; 5'-ACAGGGATTTGGGGAATTATTTG-3' and 9i-3s; 5'AAGAGACATGGACACCAAAT-3'. Insertion of four nucleotides AGAT was detected after position 1461. The insertion is a duplication of preceding sequence and creates a stop codon TAA caused by changing the reading frame. The mutation has been found once among 232 CF chromosomes. Mutation on the other chromosome of the pancreatic sufficient CF patient is unknown. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1993-01-20
Institute The Hospital For Sick Children Toronto, Canada 
Phenotype Information CFTR2
Reference Zielenski et al. 1995 

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  • Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC   Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1995;5(1):43-7

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The Database was last updated at Apr 25, 2011