Mutation Details for c.902A>G

cDNA Name c.902A>G 
Protein Name p.Tyr301Cys 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name Y301C 
Other Details This mutation is in exon 7 at amino acid residue 301. It is substitution of Cysteine for Tyrosine (Y301C), because of a A->G transition. 
Contributors Constantinou-Deltas CD   1993-07-23
Institute Cyprus Institute of Neurology & Genetics Nicosia, Cyprus 
Submitted Phenotype Details  
Reference Constantinou-Deltas (NL#58) 

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The Database was last updated at Apr 25, 2011