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

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

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]