Mutation Details for c.4220T>C

cDNA Name c.4220T>C 
Protein Name p.Met1407Thr 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name M1407T 
Other Details The father, who transmitted the anomaly, is Turkish. 
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2004-01-21
Institute Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France 
Submitted Phenotype Details This mutation was identified at the heterozygous state in a fetus with bowel dilation in association with a microcephaly and cerebral atrophy, which led to termination of pregnancy. No other CF mutation was found. We have considered the mutation as possibly CF-causing given the location (NBF2) and nature of the amino acid change, and the conservation of the M1407 residue among species. 

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The Database was last updated at Apr 25, 2011