Mutation Details for c.558C>A

cDNA Name c.558C>A 
Protein Name p.Asn186Lys 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name N186K 
Other Details This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 on the other chromosome. This patient presented a positive sweat test (chloride 88 mmol/l) and DDB. The change destroys an MmeI site. 
Contributors Claustres M, Carles S   1998-08-04
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details One patient (female) PS, bronchiectasis, sweat chloride of 88 mEq/l. DelF508 on the other allele. (pers. corr. Claustres)  
Reference Claustres & Carles (NL#70) 

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