Table 2.

DNA (P6B) binding affinities of PAX6 mutations.

Mutation	Iris anomaly	Kd (μM)	N	△H (kJ/mol)	T△S (kJ/mol)	reference
WT	WT	0.411 ± 0.068	0.972 ± 0.012	−187 ± 4.61	−150	(—)
p.Gly72Cys	iris hypoplasia	0.579 ± 0.370	0.762 ± 0.044	−125 ± 13.2	−89.5	this study
p.Val84Alafs*8	iris hypoplasia	no binding	—	—	—	this study
p.Gly64Val	normal iris	2.520 ± 1.020	0.751 ± 0.043	−195 ± 24.2	−163	23
p.Gly72Ser	iris hypoplasia	1.200 ± 0.130	0.728 ± 0.009	−115 ± 3.24	−80.8	25
p.Gly73Asp	aniridia	0.489 ± 0.128	0.590 ± 0.014	−83.3 ± 3.59	−47.3	26
p.Ser74Gly	normal iris	0.699 ± 0.180	0.831 ± 0.019	−106 ± 5.18	−70.8	27
p.Pro76Arg	normal iris	0.740 ± 0.093	0.712 ± 0.008	−111 ± 2.82	−75.8	24

Kd is dissociation constant in equilibrium state; N, stoichiometry indicates the ratio of ligand-to-macromolecule binding; ΔH, enthalpy is indication of changes in hydrogen and van der Waals bonding; TΔS, entropy is indication of changes in hydrophobic interaction and conformational changes.