Mutation Details for c.3415A>G

cDNA Name c.3415A>G 
Protein Name p.Ile1139Val 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name I1139V 
Other Details This mutation is a missense mutation which is caused by a substitution of an A to a G at nucleotide position 3547. Ile is therefore substituted to Val at amino acid position 1139 : I1139V. This mutation has been detected once among 55 unrelated Belgian CF chromosome. 
Contributors Teng H, Cuppens H, Cassiman JJ   1993-12-13
Submitted Phenotype Details One subject, male, father of CF patient. 3849+10kbC->T on the other allele. (pers. corr. De Boeck) 
Reference Teng et al. 1994 

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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.

  • Vankeerberghen A, Wei L, Teng H, Jaspers M, Cassiman JJ, Nilius B, Cuppens H   Characterization of mutations located in exon 18 of the CFTR gene.   1998 010 16;437(1-2):1-4

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The Database was last updated at Apr 25, 2011