Mutation Details for c.3158C>T

cDNA Name c.3158C>T 
Protein Name p.Thr1053Ile 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name T1053I 
Other Details This sequence variation was detected by DGGE and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. This putative mutation was found in a CBAVD patient from France. He also has the [delta]F508 mutation and the 5T allele (5/9). 
Contributors Bienvenu T, Bousquet S, Beljord C   1998-12-31
Institute Assistance Publique Hopitaux de Paris, France 
Submitted Phenotype Details The 31-year old male patient was diagnosed at 27 y with CBAVD. He is PS and has normal lung function. he carries deltaF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (1998) 

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