Mutation Details for c.2939T>A

cDNA Name c.2939T>A 
Protein Name p.Ile980Lys 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name I980K 
Other Details A new missense mutation in exon 16 was found in an infertile French man with congenital bilateral absence of the vas deferens. This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. 
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1994-05-19
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details One patient, male, 40y, diagnosed at 32 with CBAVD, is PS, has mild pulmonary disease, sweat chloride 95 mmol/l. He is carrying delF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#62) 

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