Table 2.

Compendium of PAX6 missense mutations in DNA-binding domains resulting in various iris phenotypes. Mutations, expressed as amino acid substitutions, and associated phenotypes extracted from the PAX6 mutation database (http://lsdb.hgu.mrc.ac.uk/home.php? select_db = PAX6).³⁰

Mutation	Iris phenotype	Mutation	Iris phenotype	Mutation	Iris phenotype
β-turn		Gly51Arg	II	linker 2
Gly7Arg	TAN	Cys52Arg	TAN	Gln178His	TAN
Asn9Ile	IH	Val53Leu	II	Ala208Gln	TAN
Gly12Arg	TAN	Lys55Thr	TAN	Ala208Trp	PAN
Asn17Ser	TAN	Lys55Arg	IH	HD:α7-helix
Gly18Trp	PAN	Ile56Thr	IH	Arg214Gly	TAN
Arg19Pro	II	Thr63Pro	IH	Arg214Ser	TAN
PAI:α1-helix		linker 1		Ser216Pro	PAN
Arg26Pro	IH	Gly64Val	IH	HD:α8-helix
Ile29Ser	TAN	Ile66Asn	II	Arg242Thr	PAN
Ile29Val	TAN	Pro68Ser	II	HD:α9-helix
Leu32Val	TAN	Gly72Ser	IH	Val256Ala	IH
Ala33Pro	PAN	Gly73Asp	TAN	Phe258Ser	IH
Gly36Trp	TAN	Ser74Gly	II	Arg261Gly	II
Gly36Arg	IH	Pro76Arg	II
Gly36Ala	II	Val78Ala	II
PAI:α2-helix		Ala79Glu	IH
Arg38Trp	TAN	RED:α4-helix
Asp41Gly	PAN	Ile87Arg	TAN
Ile42Ser	PAN	Ile87Lys	TAN
Ser43Pro	TAN	Glu93Lys	TAN
Ser43Phe	II	RED:α5-helix
Arg44Gln	TAN	Ala99Pro	II
Leu46Arg	IH	Arg105Ser	IH
Leu46Pro	II	Pro118Arg	IH
Leu46Val	II	Pro118Gln	IH
Gln47Arg	TAN	Ser119Arg	TAN
Gln47Glu	TAN	RED:α6-helix
Val48Gln	TAN	Ser121Pro	PAN
Ser49Phe	IH	Ser121Leu	TAN
PAI:α3-helix		Val126Asp	PAN
Asn50Lys	II	Arg128Cys	II
Gly51Ala	II	Arg128Pro	IH

Abbreviations: TAN, total aniridia; PAN, partial aniridia; IH, intact irides with some iris hypoplasia; II, intact irides; PAI, PAI DNA-binding subdomain; RED, RED DNA-binding subdomain; HD, homeodomain DNA-binding domain.

Terms in bold refer to the structural regions of the PAX6 protein (see Fig. 4).