Mutation Details for c.2929T>C

cDNA Name c.2929T>C 
Protein Name p.Ser977Pro 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name S977P 
Other Details This missense mutation was identified in a German CF patient who is also heterozygous for [delta]F508. The 12 year old boy is PI but so far not affected by CF typical opportunistic pathogens. 
Contributors Dork T, Bosshammer J, Tummler B   1992-11-23
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The patient (male, 11) was diagnosed at 4 months old, with Cf, is PI, has severe lung disease (FEV1 36%). He carries DelF508 on the other allele. (pers.corr. Doerk) 
Reference Dörk et al. (NL#51) 

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