Table 3.
MAF human mutations
| Nuc. Pos. | AA Pos. | Vt | AD/ AR |
Prot. Func. |
AA Con . |
Pat ho. |
Ap | C | C o |
F c |
G | H | C o l |
M c |
M t |
N y |
P a |
Sy | Pat. Info. | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.161C>T | p.Ser54Leu | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 39 years, female | (Aymé and Philip, 1996; Niceta et al., 2015) |
| c.161C>T | p.Ser54Leu | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 43 years, female) | (Niceta et al., 2015) |
| c.172A>G | p.Thr58Ala | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 27 years, female | (Gripp et al., 1996; Niceta et al., 2015) |
| c.173C>T | p.Thr58Ile | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 22 monthss, male) | (Nakane et al., 2002; Niceta et al., 2015) |
| c.176C>G | p.Pro59Arg | ms | NA | Pre-d | y | m | y | y, cg, nu | n | y | y | y | n | n | n | n | n | Asperger | Proband | (Javadiyan et al., 2017) |
| c.176C>G | p.Pro59Arg | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | n | Mother of proband | |
| c.176C>A | p.Pro59His | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 9 years, female) | (Keppler-Noreuil et al., 2007; Niceta et al., 2015) |
| c.176C>A | p.Pro59His | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 5 years, female) | (Niceta et al., 2015) |
| c.185C>G | p.Thr62Arg | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 21 months, male) | (Niceta et al., 2015) |
| c.206C>G | p.Pro69Arg | ms | NA | Pre-d | y | m | n | y | n | y | n | y | n | n | n | n | n | Ayme-Gripp | Proband (age 21 months, male) | (Gripp et al., 1996; Niceta et al., 2015) |
| c.809C>A | p.Ser270Tyr | ms | AD | Pre-d | y | m | n | y, nu | n | n | n | n | n | y | n | y | n | n | Proband | (Dudakova et al., 2017) |
| c.809C>A | p.Ser270Tyr | ms | AD | Pre-d | y | m | n | y, cg, nu | n | n | n | n | n | y | n | y | n | n | Half brother of proband | |
| c.819G>C | p.Glu273Asp | ms | AD | Pre-d | y | m | n | y, cr | n | n | n | n | n | n | n | n | n | n | Two affected family members (father and son) | (Ma et al., 2016) |
| c.864G>C | p.Arg288Pro | ms | AD | nr | y | m | n | y, ct, nu | n | n | n | n | y | y | n | n | n | n | Two affected family members | (Jamieson et al., 2002) |
| c.880C>T | p.Arg294Trp | ms | AD | Pre-d | y | m | n | y, cg | n | n | n | n | n | n | n | n | n | n | Probands from thirty families | (Ma et al., 2016) |
| c.880C>T | p.Arg294Trp | ms | AD | Pre-d | y | m | n | y, nu | n | n | n | n | n | n | n | y | n | n | Seven affected family members | (Sun et al., 2014) |
| c.890A>G | p.Lys297Arg | ms | AD | nr | y | m | n | y, cr | n | n | n | n | n | n | n | n | n | n | Proband (8 years age) | (Vanita et al., 2006) |
| c.890A>G | p.Lys297Arg | ms | AD | nr | y | m | n | y | n | n | n | n | n | n | n | n | n | n | Five affected family members | |
| c.890A>G | p.Lys297Arg | ms | AD | nr | y | m | n | y | n | n | n | n | y | y | n | n | n | n | Six affected family members | |
| c.895C>A | p. Arg299Ser | ms | NA | nr | y | m | n | y, cg, po, nu | n | n | n | n | y | n | n | n | n | n | Four affected family members | (Hansen et al., 2007, 2009) |
| c.908A>C | p.Gln303Leu | ms | NA | Pre-d | y | m | n | y, cg | n | n | n | n | n | n | n | n | n | n | Proband | (Narumi et al., 2014) |
| c.908A>C | p.Gln303Leu | ms | NA | Pre-d | y | m | n | y, cg | n | n | n | n | n | n | n | n | n | n | Mother of proband | |
| c.908A>C | p.Gln303Leu | ms | NA | Pre-d | y | m | n | y | n | n | n | n | n | n | n | n | n | n | Maternal grandmother of proband | |
| c.908A>C | p.Gln303Leu | ms | NA | Pre-d | y | m | n | y, la | n | n | n | n | y | y | n | n | n | n | First maternal cousin of proband | |
| c.908A>C | p.Gln303Leu | ms | NA | Pre-d | y | m | n | y, nu | n | n | y | n | n | n | n | n | n | n | Second maternal cousin of proband | |
| c.908A>C | p.Gln303Leu | ms | NA | Pre-d | y | m | n | y | n | n | n | n | n | y | n | n | n | n | Mother and sister of second maternal cousin of proband | |
| c.915C>T | p.Cys305Trp | ms | AD | Pre-d | y | m | n | y, cg | n | n | y | n | n | n | n | n | n | n | Proband | (Ma et al., 2016) |
| c.958A>G | p.Lys320Glu | ms | NA | nr | y | m | n | y, cg | n | n | n | n | n | n | n | n | n | n | Proband | (Hansen et al., 2009) |
| c.958A>G | p.Lys320Glu | ms | NA | nr | y | m | n | n | n | n | n | n | n | y | n | n | n | n | One affected family member | |
| t(5;16)(p15.3;q23.2) | - | - | NA | nr | y | m | n | y | n | n | n | n | n | n | n | n | n | n | Two affected family member | (Jamieson et al., 2002) |
| t(5;16)(p15.3;q23.2) | - | - | NA | nr | y | m | n | y, cg | y | n | n | n | y | n | y | n | y | n | Other affected family members |
Notes: NA, not reported in original article; Nuc. Pos., nucleotide position in CDS; AA Pos., amino acid position; Vt, variant type; fs, frameshift; ms, missense; ns, nonsense; nt, nonstop; AD, autosomal dominant; AR, autosomal recessive; NA, not available; Prot. Func, protein function; nr, not reported; Pre-d, predicted- damaging; n, no; y, yes; AA con., amino acid conservation; Patho., pathogenicity; m, maybe pathogenic; Ap, Aphakia; C, Cataract; cr, cerulean; cg, congenital; ct, cortical; la, lamellar; nu, nuclear; po, polar; Co, Corneal opacity/abnormal cornea; Fc, Facial characteristics; G, Glaucoma; H, Hearing loss; Col, Iris coloboma/coloboma/abnormal iris; Mc, Microcornea; Mt, Microphthalmia; Ny, Nystagmus; Pa, Peters anomaly; Sy, Syndrome; Pt. Info., patient information; Ref., reference