TABLE 3.

Mutations in the coding sequence of DSPP associated with DGI-Ⅲ.

Location	cDNA	Protein	Mutation class	Enamel affected	DEJ affected	References
Intron 2	c.52-2A>G	p.(Val18_Gln45del)	Splice site	-	-	Li et al. (2017)
Exon 2	c.52G>T	p.(Val18Phe)	Missense	-	-	Kim et al. (2005)
Exon 2	c.53T>A	p.(Val18Asp)	Missense	-	-	Lee et al. (2009)
Exon 3	c.133C>T	p.(Gln45X)	Nonsense	Enamel defects	Flat	Song et al. (2006)
Exon 5	c.3599_3634 del 36bp	Del1160-1171	Frameshift	-	-	Dong et al. (2005)
Exon 5	c.3715_3716 ins 18bp	Ins1198-1199	Frameshift	-	-	Dong et al. (2005)

(“-” refers to not mentioned in the corresponding literature).