Mutation Details for c.416A>G

cDNA Name c.416A>G 
Protein Name p.His139Arg 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name H139R 
Other Details A novel mutation was identified by DGGE and direct sequencing in a CF patient of Italian patient. The nucleotide change is A->G at position 548 in exon 4 leading to H139R 
Contributors Ferec C, Quere I, Audrezet M-P, Mercier B, Novelli, Sangiuolo F, Dallapiccola B   1994-01-03
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details no clinical information available 
Reference Férec et al. 1995 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B   Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.   1995 004;9(2):135-7
  • Martin-Campos JM, Catasus L, Chico A, Mayoral C, Lagarda E, Gallart L, Mato E, Rodriguez-Espinosa J, Matias-Guiu X, De Leiva A, Blanco-Vaca F   Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.   1999 012;8(4):195-204




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The Database was last updated at Apr 25, 2011