Mutation Details for c.1495C>G

cDNA Name c.1495C>G 
Protein Name p.Pro499Ala 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name P499A 
Other Details The above mutation was detected by SSCP analysis and identified by direct sequencing. It was found on the paternal chromosome in a CBAVD patient, with his maternal chromosome carrying W1282X. The mutation removes a BstNI site. 
Contributors Arduino C, Brusco A, Ferrone M, Carbonara A   1996-04-22
Institute Servizio di Genetica Medica Torino, Italy 
Submitted Phenotype Details The patient (male,30) was diagnosed with CBAVD at 26y, is PS, no lung disease. W1282X on the other allele. (pers.corr.Arduino and Arduino et all 1998) 
Reference Arduino et al. (NL#68) 

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