Molecular Vision: Dubey, Mol Vis 2015; 21:88-97. Table 1

Table 1. Summary of PAX6 mutations identified in the present study.

S. No.	Patient ID	Inheritance	Exon/Intron	Domain	Mutation^†	Type of mutation	Effect on protein/ mRNA
1	AN-118–1	AD	Exon 4	PD	c.7_10dupAACA	Duplication, PTC in exon 6	p.Ser4Lysfs*53
2	AN-118–2	AD	Exon 4	PD	c.7_10dupAACA	Duplication, PTC in exon 6	p.Ser4Lysfs*53
3	AN-99–1	AD	Intron 4	PD	c.10+1G>A	Substitution, splicing	Splicing error
4	AN-99–2	AD	Intron 4	PD	c.10+1G>A	Substitution, splicing	Splicing error
5	AN-87–1	Sporadic	Exon 5	PD	c.112delC	Deletion, PTC in exon 6	p.Arg38Glyfs*16
6	AM-68–1	Sporadic	Exon 5	PD	c.141G>A	Substitution, splicing	Splicing error
7	AN-82–1	Sporadic	Intron 5	PD	c.141+4A>G	Substitution, splicing	Splicing error
8	AN-107–1	AD	Exon 6	PD	c.242delC	Deletion, PTC in exon 6	p.Pro81Glnfs*4
9	AN-107–2	AD	Exon 6	PD	c.242delC	Deletion, PTC in exon 6	p.Pro81Glnfs*4
10	AN-120–1	AD	Exon 6	PD	c.249delT	Deletion, immediate PTC	p.Val84*
11	AN-120–2	AD	Exon 6	PD	c.249delT	Deletion, immediate PTC	p.Val84*
12	AN-105–1	Sporadic	Exon 8	LNK	c.567dupC	Duplication, PTC in exon 8	p.Ile190Hisfs*10
13	AN-86–1	Sporadic	Exon 8	LNK	c.607C>T	Nonsense, immediate PTC	p.Arg203*
14	AN-85–1	Sporadic	Exon 9	HD	c.704dupC	Duplication, PTC in exon 9	p.Asp236Argfs*16
15	AN-92–1	Sporadic	Exon 9	HD	c.753_754insTA	Insertion, immediate PTC	p.Ala252*
16	AN-91–1	AD	Exon 9	HD	c.764A>G	Missense, splicing	p.Gln255Arg, splicing error
17	AN-91–2	AD	Exon 9	HD	c.764A>G	Missense, splicing	p.Gln255Arg, splicing error
18	AN-91–3	AD	Exon 9	HD	c.764A>G	Missense, splicing	p.Gln255Arg, splicing error
19	AN-104–1	Sporadic	Exon 10	PST	c.868dupA	Duplication, PTC in exon 11	p.Ser290Lysfs*51