Mutation Details for c.303_304insA

cDNA Name c.303_304insA 
Protein Name p.Leu102ThrfsX9 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 435insA 
Other Details This mutation was found in two Turkish siblings (9 and 15 years old) who carry a yet unknown mutation on the other chromosome. The insertion creates a recogntion site for Mse I digestion of exon 4 PCR product yields five fragments for the mutant (33, 35, 56, 71, 244) and four fragemnts for the normal allele (33, 35, 71, 299). This fragent length pattern is nearly identical to that of the splice mutation 621+1G->T. 435 insA is associated with the haplotype 2-2-1 and seven GATT repeats. The insertion restults in a stop codon at position 110 and was detected only onc e among 14 Turkish and 102 German non-[delta]F508 CF chromosomes. 
Contributors Dork T, Tummler B, Kalin N   1991-09-12
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The mutation was identified in 2 siblings, genotype 435insA/2184delA,2183A->G, both male (7 and 16 years old), diagnosed in infancy, both PI with moderate lung disease, chronic PA colonization and hepatosplenomegalie.(Kalin et al. 1992) 
Reference K√§lin et al. 1992b 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Kalin N, Dork T, Bozon D, Tummler B   A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening.   1992 010;1(7):545-6




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The Database was last updated at Apr 25, 2011