Mutation Details for c.3435G>A

cDNA Name c.3435G>A 
Protein Name p.Trp1145X 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name W1145X 
Other Details This mutation was detected by DGGE analysis of exon 18 followed by direct sequencing in adult patient carryng 3659delC in the other chromosome. This CFTR mutation was never found in more than 800 CF chromosomes and in 100 normal chromosomes from Italian population.(Original note Seia et al. June 2000) The mutation was also reported by Aquino et al. in February 2000. This mutation was found in an Italian CF patient with pancreatic insufficiency, bearing [delta]F508 on the other chromosome.  
Contributors Seia M, Cantù-Rajnoldi A, Pizzamiglio G, Padoan R, Giunta A Aquino A, Girodon E, D'Alcamo E, Maggio A, Goossens M    2000-06-22
Institute Lab. Generica Molecolare ICP Milan Centro Fibrosi Cistica Università degli Studi, Milan, Italy 
Submitted Phenotype Details The patient was diagnosed at 22years, because of chronic sinusitis and nasal polyposis, with mild lung disease and Staph.aures infection. He presented with pancreatic insufficiency and pathological sweat chloride values on repeated occasions ( 121 and 126mmol/L ).(pers. corr. Padoan) W1145X was found in a PI patient also carrying deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Seia et al. 2000 

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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.

  • Seia M, Cantu-Rajnoldi A, Ambrosioni A, Fiori S, Bassotti A, Pizzamiglio G, Giunta A, Padoan R   A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.   2000 012;16(6):532-3

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The Database was last updated at Apr 25, 2011