Mutation Details for c.2249C>T

cDNA Name c.2249C>T 
Protein Name p.Pro750Leu 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name P750L 
Other Details This missense was found in a fetus with echogenic abnormalities. No other mutation was found.P750L is probably a CF mutation as Proline at this position is conserved in 5 species. 
Contributors Chevalier-Porst F, Bozon D   2000-04-25
Institute Biochimie Pediatrique Hopital Debrousse, Lyon France 
Submitted Phenotype Details One patient (M) is older than 2mo, has PI and chronic lung disease. DeltaF508 was found on the other allele. (Orozco et al. 2000) One patient (M) is 8y, has asthma and elevated sweat-chloride levels (90mM/l). Nothing is known about his pancreatic status. DeltaF508 was found on the other allele. (Pers. corr. Bozon) One patient (male) was diagnosed when 10 years old. He has asthma, is PI and carries an unknown other mutation. (pers.corr. Wagner)  
Reference Chevalier-Porst & Bozon 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.

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The Database was last updated at Apr 25, 2011