Mutation Details for c.3535_3536insTCAA

cDNA Name c.3535_3536insTCAA 
Protein Name p.Thr1179IlefsX17 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3667ins4 
Other Details This mutation is a 4 nucleotide insertion TCAA after nucleotide position 3667. This insertion creates a stop codon (TGA) 45 nucleotides after the 3667 position and has been detected by SSCP analysis. The mutation destroys a HincII site. 
Contributors Novelli G, Sangiuolo F, Lo Cicero S, Maceratesi P, Dallapiccola B   1992-06-03
Institute Croce Rossa Italiana Roma, Italy 
Submitted Phenotype Details The homozygous 20 years old female patient is PS and has mild pulmonary symptoms.(pers. corr. Sangiuolo and Sangiuolo et al. 1993) The mutation was found among other in patients with DBE. (Pignatti et al. 1995) 
Reference Sangiuolo et al. 1993 

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The Database was last updated at Apr 25, 2011