Mutation Details for c.4264C>T

cDNA Name c.4264C>T 
Protein Name p.Arg1422Trp 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name R1422W 
Other Details This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 and D993Y. No parental DNA was available at the time to determine with which allele R1422W was associated. The mutation destroys a Fnu4HI restriction site. 
Contributors Claustres M, Guittard C, Desgeorges M   1997-08-04
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (F) is 28y, has PI, severe lung disease and elevated sweat-chloride. DeltaF508 and 3212C/T were found on the same allele as R1422W, D993Y was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. (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