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Table 1 Mutations of DSPP causing DGI and DD.

From: Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

  Predicted Protein cDNA Diagnosis Reference
Exon 2 p.Y6D c.16T>G DD-II [31]
  p.A15V c.44C>T DGI-II [33]
  p.P17T c.49C>A DGI-II [23]
  p.P17S c.49C>T DGI-II [2, 39]
Intron 2 p.V18_Q45del c.52-3C>G DGI-II [34]
   c.52-3C>A DGI-II [38]
Exon 3 p.V18F c.52G>T DGI-II/III [5, 3638]
  p.Q45X c.133C>T DGI-II [32, 37]
Intron 3 p.V18_Q45del c.135+1G>A DGI-II [5]
   c.135+1G>T DGI-II/III [26]
Exon 5 p.S624TfsX687 c.1870-1873del TCAG DD-II [26]
  p.S640TfsX671 c.1918-1921del TCAG DD-II [26]
  p.S680fsX1313 c.2040delC DD-II [27]
  p.S758AfsX554 c.2272del A DGI-II/III [26]
  p.S842TfsX471 c.2525del G DGI-II/III [26]
  p.S865fsX1313 c.2593delA DGI-II [27]
  p.S895fsX1313 c.2684delG DGI-II [27]
  p.D1146fsX1313 c.3438delC DGI-II [27]
  p.D1182fsX1312 c.3546-3550delTAGCAinsG DGI-II [27]
  1. Nucleotide numbering follows that adopted in [2], which assumes position 1 is the A of the ATG start codon using the reference sequence NM_014208.3.