Mutation Details for c.731T>A

cDNA Name c.731T>A 
Protein Name p.Met244Lys 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name M244K 
Other Details A new mutation was found (by DGGE, then both strands DNA have been sequenced) in a CBAVD patient from Southern France. 
Contributors Claustres M, Desgeorges M, Romey M-C   1994-12-07
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details Patient (M) has CBAVD, DeltaF508 was found on the other allele. (de Meeus et all 1998 and pers. corr. Claustres) 
Reference Claustres et al. (NL#64) 

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The Database was last updated at Apr 25, 2011