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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, 36–38]

 

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.