Table 3 of
Bennett, Mol Vis 2011; 17:2255-2262. Table 3 of
Bennett, Mol Vis 2011; 17:2255-2262.
Table 3. Summary of mutations/variations found in GJA3 (exon 2) associated with autosomal dominant and age-related forms of cataract.
| DNA change | Coding change | PSSM wt/mut | SIFT | PolyPhen2 | Protein domain | Cataract phenotype | Origin | References |
|---|---|---|---|---|---|---|---|---|
| c.-39C>G | - | - | - | - | - | Age-related nuclear | China | [41] |
| c.5G>A | p.G2D | - | 0.00 | 1.000 | NH2-Term | Nuclear pulverulent and posterior polar | China | [48] |
| c.7G>T | p.D3Y | +6/-4 | 0.00 | 1.000 | NH2-Term | Zonular pulverulent | Honduras | [49] |
| c.32T>C | p.L11S | +6/-4 | 0.00 | 1.000 | NH2-Term | “Ant egg” | Denmark | [50] |
| c.56C>T | p.T19M | +8/-3 | 0.00 | 1.000 | NH2-Term | Posterior polar | India | [51] |
| c.82G>A | p.V28M | +6/-1 | 0.00 | 0.970 | TM-1 | “Total, anterior capsular, cortical” | India | [40] |
| c.96C>A | p.F32L | +9/-1 | 0.00 | 0.999 | TM-1 | Nuclear pulverulent | China | [52] |
| c.98G>T | p.R33L | +8/-4 | 0.00 | 1.000 | TM-1 | Granular embryonal | India | [53] |
| c.130G>A | p.V44M | +5/-1 | 0.00 | 1.000 | EC-1 | Nuclear | China | [36] |
| c.130G>A | p.V44M | +5/-1 | 0.00 | 1.000 | EC-1 | ? | USA | This study |
| c.134G>C | p.W45S | +12/-4 | 0.00 | 1.000 | EC-1 | Nuclear | China | [54] |
| c.139G>A | p.D47N | +8/-1 | 0.01 | 1.000 | EC-1 | Nuclear | China | [55] |
| c.176C>T | p.P59L | +9/-5 | 0.00 | 1.000 | EC-1 | Nuclear punctate | USA | [37] |
| c.176C>T | p.P59L | +9/-5 | 0.00 | 1.000 | EC-1 | ? | Denmark | [38] |
| c.188A>G | p.N63S | +8/+1 | 0.00 | 0.833 | EC-1 | Variable pulverulent | UK | [17] |
| c.226C>G | p.R76G | +8/-4 | 0.00 | 0.961 | TM-2 | Total | India | [40] |
| c.227G>A | p.R76H | +8/-2 | 0.00 | 1.000 | TM-2 | Nuclear lamellar pulverulent | Australia | [39] |
| c.227G>A | p.R76H | +8/-2 | 0.00 | 1.000 | TM-2 | ? | Denmark | [38] |
| c.260C>T | p.T87M | +6/-2 | 0.00 | 1.000 | TM-2 | “Pearl-box” | India | [56] |
| c.415G>A | p.V139M | - | 0.07 | 0.818 | CL | Age-related cortical | China | [41] |
| c.560C>T | p.P187L | +8/-2 | 0.00 | 0.999 | EC-2 | Zonular pulverulent | UK | [57] |
| c.559C>T | p.P187S | +8/-2 | 0.00 | 0.961 | EC-2 | Nuclear pulverulent | China | [58] |
| c.563A>C | p.N188T | +6/-2 | 0.02 | 0.931 | EC-2 | Nuclear pulverulent | China | [59] |
| c.1137insC | p.S380QfsX88 | - | - | - | COOH-Term | Punctate | UK | [17] |