Table 3.

List of mutations occurring within the PAX9 gene according to type of mutation.

Type of mutation	Classification	Nucleotide	Molecular consequence	Phenotype	References
Frameshift	Deletion > insertion	175_188 (del8inse288)	Disruption of C-terminal binding region	Hypodontia	[43]
	Deletion > insertion	619_621 (del3ins24)	Premature termination of protein translation	Oligodontia	[41]
	Insertion	218_219insG	Extension of several G-series	Oligodontia	[44], [45]
	Insertion	792_793insC	Protein truncation and termination	Oligodontia	[46]
	Deletion	230_242del13	Disruption of protein translation	Oligodontia	[38]
	Deletion	465delG	Disruption of protein translation	Hypodontia	[47]
	Deletion	462delT	Disruption of protein translation	Hypodontia	[47]
	Insertion	624_625insA	Disruption of protein translation	Hypodonita	[47]
Nonsense	Deletion	14q locus	Abolished protein function (Haploinsufficiency)	Hypodontia	[48]
	Transition	1A > G	Abolished protein function (Haploinsufficiency)	Oligodontia	[49]
	Transition	2T > G	Abolished protein function (Haploinsufficiency)	Oligodontia	[50]
	Substitution	340A > T	PAX9 premature termination at N-terminal DNA binding region	Oligodontia	[51]
	Substitution	480C > G	Premature stop codon	Hypodontia	[45]
Missense	Substitution	62T > C	Reduction of DNA binding ability and specificity	Hypodontia	[43]
		271A > G		Hypodontia	[43]
		76C > T		Oligodontia	[53]
		83G > C		Oligodontia	[52]
		238A > G	Reduction of DNA binding ability and specificity	Oligodontia	[38]
		428A > G
		152G > C
		718G > C	Structural PAX9 protein sequence (polymorphism)	Hypodontia	[54]
Silent	Substitution	717C > T	No significant changes in sequences	Hypodontia	[54]