Mutation Details for c.3409A>G

cDNA Name c.3409A>G 
Protein Name p.Met1137Val 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name M1137V 
Other Details This mutation (M1137V) in exon 18 of CFTR gene. The nucleotide at position 3541 was changed from A to G leading to a substitution of methionine codon for valine codon at position 1137. The mutation was foudn once in 384 chromsomes (289 CF chromosomes and 95 normal chromosomes) screened. Mutation on the other chromosome of the pancreatic sufficient patient is unknown. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1993-10-15
Institute Hosptial For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was found in a male CF patient, PS, with mild/moderate pulmonary symptoms and sweat chloride >70 mmoo/l. He carries an unknown mutation on the other allele. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#59) 

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The Database was last updated at Apr 25, 2011