Mutation Details for c.1631G>T

cDNA Name c.1631G>T 
Protein Name p.Gly544Val 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name G544V 
Other Details This putative mutation was found by DGGE and identified by direct sequencing in a CBAVD patient from Southern France. It creates a MmeI restriction site. 
Contributors Claustres M, Guittard C, De Meeus A, Carles S   1996-07-05
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details Patient (M) is 28y, has CBAVD and borderline sweat-chloride. DeltaF508 was found on the other allele. 
Reference Claustres et al. (NL#69) 

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