Mutation Details for c.412_413insACT

cDNA Name c.412_413insACT 
Protein Name p.Leu137_Leu138insThr 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L138ins 
Other Details Missense mutations D58N, L568F and the leucine insertion at position 138 were all found in heterozygous CBAVD patients with yet unidentified mutations on their other alleles. We have chosen the symbol [inverse-delta] to designate an amino acid insertion but other proposals would be similarly welcome. L-CT NOTE: L138ins is assigned to this mutation, according to the newly recommended guideline. 
Contributors Dörk T, Schmidtke J, Stuhrmann M   1996-10-06
Institute Insitut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The patient (male, 34) was diagnosed at 33y with CBAVD, is PS,has no lung disease and sweat chloride is 53 mmol/l. He carries the 5T mutation on the other allele. (pers. corr. Dork) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011