Mutation Details for c.332C>T

cDNA Name c.332C>T 
Protein Name p.Pro111Leu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name P111L 
Other Details As the DNA from his parents is not yet available, we are not ablt, at the present time, to ascertain that P111L is a variant or a possible mutation. It creates a BstNI restriction site (n=438 bp, m = 190 + 248 bp), or destroys a MspI site (n = 191 + 247, m = 438 bp). 
Contributors Claustres M, Romey M-C, Desgeorges M   1994-04-21
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details de Meeus et all 1998 pers. corr. Claustres 2 Patients (M & F). The male has CBAVD and N1303K on other allele. The female is PS, has mild lung disease and sweat-chloride ranging from 12mM/l to 74mM/l and CF suspicion. No other mutation was found in this individual.  
Reference Claustres et al. (NL#62) 

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The Database was last updated at Apr 25, 2011