Mutation Details for c.3G>T

cDNA Name c.3G>T 
Protein Name p.Met1Ile 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name M1I(ATT) 
Other Details M1I was previously reported by Axton and Brock (NL#61), but with a GA nucleotide change. This mutation was found in one nine-year old male, PI, with mild pulmonary disease. The other allele is [delta]F508. S10R, a change of a neutral amino acid for a basic one, was found in one 4 year old boy, PI, with moderate pulmonary disease. This mutation was found once on 174 non-[delta]F508 chromosomes. 
Contributors Hughes D, Hill A, Graham   1995-01-18
Institute Belfast City Hospital, Northern Ireland 
Submitted Phenotype Details One patient, diagnosed at 10, PI, mild lung disease DelF508 on the other allele. (Hughes et all 1996)  
Reference Hughes et al. (NL#65) 

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The Database was last updated at Apr 25, 2011