Mutation Details for c.3424_3425insAGTA

cDNA Name c.3424_3425insAGTA 
Protein Name p.Thr1142LysfsX15 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name 3556insAGTA 
Other Details 3556insAGTA results in a duplication of the preceding sequence (AGTAAGTA) and introduced a frameshift which creates a stop codon 15 codons downstream. This mutation has been found once in 59 non-[delta]F508 CF chromosomes from the Portuguese population, associated with haplotype A. The patient carries the [delta]F508 mutation on the other chromosome and presents a severe form of CF. 3556insAGTA was found neither in 28 normal chromosomes nor in 31 [delta]F508 CF chromosomes. 
Contributors Duarte A, Lavinha J, Barreto C, Lopez B   1995-01-10
Institute Instituto Nacional de Saude, Lisboe, Portugal 
Submitted Phenotype Details The mutation was identified in a patient carrying deltaF508 on the other allele. (pers corr. Duarte) 
Reference Duarte et al. (NL#65) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011