Mutation Details for c.3083T>G

cDNA Name c.3083T>G 
Protein Name p.Met1028Arg 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name M1028R 
Other Details This mutation was found by DGGE and direct DNA sequencing in asthamtic patients of age older than 60 years. Reported in Hum Mut 14:510-519(1999) 
Contributors Lázaro C, Cid R, Alvarez M, Casals T, Estivill X   2000-09-25
Institute Centre de Genètica Mèdica i Molecular, IRO Barcelona, Spain 
Submitted Phenotype Details This individual (F) is 48y and is known to have asthma. No other mutation was found. (Pers. corr. Casals) 
Reference Lázaro et al. 2000 

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The Database was last updated at Apr 25, 2011