Table 1.

Summary of reported ALPL gene mutations affecting amino acid residues located in the collagen binding loop 422-452 within the crown domain.

Clinical form in patient	Base change	Amino acid change		Genotype of patient	Reference
		Non-standardized nomenclature	Standardized nomenclature
Perinatal	c.1268T>C	V406A	p.V423A	p.[V423A];[A116T] *	[28]
Adult	c.1270G>A	V407M	p.V424M	p.[V424M];[V424M]	Versailles, 2007
Infantile	c.1276G>T	G409C	p.G426C	p.[K224A];[G426C] *	[37]
Infantile	c.1276G>A	G409S	p.G426S	p.[G426S];[G426S]	[13]
Childhood	c.1277G>A	G409D	p.G426D	p.[G426D];[E191K] *	[29]
Perinatal	c.1282C>T	R411X	p.R428X	p.[R428X];[R428X]	[38]
Perinatal	c.1283G>C	R411P	p.R428P	p.R428P ; c.997+2T>A *	[39]
Odonto-HPP	c.1285G>A	E412K	p.E429K	p.[E429K];[?]*	Versailles, 2006
Infantile	c.1306T>C	Y419H	p.Y436H	p.[A33V];[Y436H] *	[40]
Infantile	c.1313A>T	H421L	p.H438L	p.[H438L];[H438L]	Versailles, 2009

Odonto-HPP	c.1318_20delAAC	N423del	p.N440del	p.[N440del];[R152C] *	Present study
Adult	c.1328C>T,	A426V	p.A443V	p.[A443V];[=] *	[11]
Infantile/perinatal	c.1333T>C	S428P	p.S445P	p. [S445P];[Y263]a *	[14, 21]
Odonto-HPP	c.1349G>A	R433H	p.R450H,	p.[D406G];[R450H] *	[41]
Infantile/perinatal	c.1348C>T	R433C	p.R450C	p.[R450C];[R450C]	[14, 21]

Normal allele or uncharacterized mutation (N), Heterozygous (*), previously described as a polymorphism (a), SESEP Laboratory and the Human Molecular Genetics laboratory of the University of Versailles-Saint Quentin en Yvelines, France (Versailles).

Nucleotide numbering is according to the international recommendation and Weiss et al. 1988 the first nucleotide (+1) corresponds to the A of the ATG initiation codon. Non-standardized nomenclature: Amino acid numbering is according to Weiss et al. 1988 (the nomenclature takes into account of a 17-residues signal peptide). Standardized nomenclature: Amino acid numbering is according to the recommendations to the international recommendation. The first amino acid corresponds to the ATG initiation codon.