. Author manuscript; available in PMC: 2017 Jul 31.

Published in final edited form as: Hum Mutat. 2008 Dec;29(12):1392–1404. doi: 10.1002/humu.20783

TABLE 3.

Mutations in DSPP Resulting in Dentin Defects

	cDNA^a	Protein^b	Mutation class	Ethnicity	Diagnosis	References
Exon 2	c.16T4G	p.Y6D	Signal peptide	Caucasian (German)^c	DD-II	Rajpar et al. [2002]
	c.44C4T	p.A15V	Signal peptide	Central American	DGI-II	Malmgren et al. [2004]]
	c.49C4A	p.P17T	IPV mutation	Chinese	DGI-II	Xiao et al. [2001]
	c.49C4T	p.P17S	IPV mutation	Brandywine triracial isolate	DGI-II	Hart and Hart [2007]
				Chinese	DGI-II	Zhang et al. [2001]
Intron 2	c.52-3C4G	p.V18_Q45del	IPV mutation	Korean	DGI-II	Kim et al. [2004]
	c.52^3C4A			Finnish		Holappa et al. [2006]
Exon 3	c.52G4T	p.V18_Q45del or p.V18F	IPV mutation	Chinese	DGI-II	Xiao et al. [2001]
				Korean/Caucasian	DGI-III	Kim et al. [2005]
				Chinese	DGI-III	Song et al. [2006]
				Finnish	DGI-II	Holappa et al. [2006]
	c.133C4T	p.V18_Q45del or p.Q45X	IPV mutation	Chinese	DGI-II	Zhang et al. [2001]
				Chinese		Song et al. [2006]
Intron 3	c.13511G4A	p.V18_Q45del	IPV mutation	Chinese	DGI-II	Xiao et al. [2001]
	c.13511G4T			Caucasian	DGI-II	This study
Exon 5	c.1870_1873delTCAG	p.S624TfsX687	Frameshift	Caucasian	DD-II	This study
	c.1918_1921delTCAG	p.S640TfsX671	Frameshift	Caucasian	DD-II	This study
	c.2272delA	p.S758AfsX554	Frameshift	Caucasian (Northern European)	DGI-II	This study
	c.2525delG	p.S842TfsX471	Frameshift	Caucasian (Northern European)	DGI-II	This study

All numbering assumes the A of the ATG start codon as nucleotide number one. Reference sequence NM_014208.3.

These are predictions only and not verified consequences.

Personal communication with Dr. M.J. Dixon

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