Mutation Details for c.2547C>A

cDNA Name c.2547C>A 
Protein Name p.Tyr849X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name Y849X 
Other Details The mutation was identified by DGGE screening of CFTR exons followed by sequencing of both the strands. The mutation was confirmed in the father. The Y849X mutation is associated to the haplotype "V, 1, 2, 16, 30, 13" (M470V, XV2c, KM19, IVS8CA, IVS17bCA and IVS17bTA). The mutation was neither ideintified in 65 healthy subjects nor in 135 other CF chromosomes from Southern Italy. 
Contributors Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Scarpa M, Goosens M, Salvatore F   1999-05-04
Institute Dipartimento di Biochimica e Biotecnologie Mediche Universit√† degli Studi di Napoli Federico II, Napoli, Italy 
Submitted Phenotype Details This mutation was identified in a CF patient from the Basilicata region of Southern Italy. The genotype of the patient is [delta]F508/Y849X.The 10 year old female patient was diagnosed at 4 years (sweat chloride: 100 mEq/L). She was born without meconium ileus, is pancreatic insufficient, and shows a moderate pulmonary expression (current FEV 1: 65% of predicted) and no liver expression. (original note Castaldo et al.)  
Reference Castaldo et al. 1999 

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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.

  • Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Scarpa M, Goossens M, Salvatore F   A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.   1999 009 19;14(3):272




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The Database was last updated at Apr 25, 2011