Table 2.

The summary of reported mutations in MAF gene.

No	Mutation	Domain	Phenotypes	Reference
1	p.Ser54Leu	TAD	Cataracts	Niceta et al. (15)
2	p.Ser54Trp	TAD	Ayme-Gripp syndrome	Amudhavalli et al. (16)
3	p.Ser57Phe	TAD	Ayme-Gripp syndrome	Niceta et al. (17)
4	p.Thr58Ala/Ile	TAD	Cataracts	Niceta et al. (15)
5	p.Pro59Leu/His	TAD	Cataracts	Niceta et al. (15)
6	p.Pro59Arg	TAD	Ayme-Gripp syndrome	Javadiyan et al. (18)
7	p.Thr62Arg	TAD	Cataracts	Niceta et al. (15)
8	p.Pro63Arg	TAD	Ayme-Gripp syndrome	Amudhavalli et al. (16)
9	p.Ser66Trp	TAD	Ayme-Gripp syndrome	Amudhavalli et al. (16)
10	p.Ser66Leu	TAD	Ayme-Gripp syndrome	Niceta et al. (17)
11	p.Pro69Arg	TAD	Cataracts	Niceta et al. (15)
12	p.Ala169Ser	EHR	Cataracts	Liu et al. (19)
13	p.Phe261Ser	EHR	Cataracts	Jackson et al. (20)
14	p.Ser270Tyr	EHR	Cataracts	Dudakova et al. (21)
15	p.Val271Glu	EHR	Cataracts	Si et al. (7)
16	p.Glu273Asp	EHR	Cataracts	Ma et al. (22)
17	p.Arg288Pro	BR	Cataracts	Jamieson et al. (11)
18	p.Arg294Trp	BR	Cataracts	Sun et al. (23)
19	p.Lys297Arg	BR	Cataracts	Vanita et al. (24)
20	p.Asn298Tyr	BR	Cataracts	Patel et al. (25)
21	p.Arg299Ser	BR	Cataracts	Hansen et al. (26)
22	p.Tyr301His	BR	Cataracts	This study
23	p.Gln303Pro	BR	Cataracts	Narumi et al. (27)
24	p.Cys305Trp	BR	Cataracts	Ma et al. (22)
25	p.Arg306Gly	BR	Cataracts	Ma et al. (28)
26	p.Glu317Gly	LZM	Cataracts	Li et al. (29)
27	p.Lys320Glu	LZM	Cataracts	Hansen et al. (30)
28	p.Pro366Argfs*8	LZM	Cataracts	Ziats et al. (31)

TAD, transactivation domain; HER, extended homology region; BR, basic region motif; LZM, leucine zipper motif.