Mutation Details for c.2T>C

cDNA Name c.2T>C 
Protein Name p.Met1Thr 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name M1T 
Other Details This mutation is supposed to prevent initiation of the translation. It abolishes a NlaIII restriction site. It was found in a CF girl with a mild PS form, nasal polyposis and positive sweat tests. She carries R334W on the other CF chromosome. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details M1T was found in 2 patients 11 and 9y, one F, one M diagnosed in infancy, PS, with mild (FEV1=70%) pulmonary symptoms and positive sweat chloride and nasal polyposis. R334W was found on the other allele. (pers. corr. Girodon). This mutation was also identified in a female subject from Reunion Island. Her sweat test was 118 meq/l and showed gastrointestinal symptoms. At the age of 7 months, she presented no lung disease. Her other CF mutation was 3120+1G>A. 
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011