Molecular Vision: Cai, Mol Vis 2010; 16:1141-1145. Table 3

Table 3. Mutations impacting on residues (Arg38 to Ser43) cause different phenotypes.

Genotype
cDNA	Protein	Phenotype	Reference
c.471del9	p.37_39del	Aniridia	[12]
c.474C>T	p.Arg38Trp	Aniridia, microphthalmia, nystagmus, cataract	[13]
c.474delC	p.Arg38GlyfsX16	Aniridia	[14]
c.474_485del12insGA	p.Arg38GlufsX13	Aniridia, glaucoma, cataract, foveal hypoplasia, corneal pannus	[15]
c.476_483del8	p.Pro39HisfsX14	Aniridia	[16]
c.478insCC	p.Cys40ArgfsX15	Iris hypoplasia	[17]
c.482C>A	p.Cys40X	Aniridia	[18]
c.483_491del9	p.41_43delAspIleSer	Aniridia	[19]
c.484A>G	p.Asp41Gly	Iris hypoplasia, nystagmus	[20]
c.486delA	p.Ile42PhefsX12	Aniridia, glaucoma	[21]
c.487T>G	p.Ile42Ser	Aniridia, nystagmus, congenital cataract	[22]
c.489T>C	p.Ser43Pro	Aniridia, cataract, nystagmus	[23]