Table 3 of Wang, Mol Vis 2009; 15:2813-2820.
Mutation |
Amino acid change |
Location |
Cataract type |
Origin of family |
Reference |
---|---|---|---|---|---|
68G>C | R23T | NH2-terminus | Progressive dense nuclear | Iranian | [27] |
92T>C | I31T | First transmembrane domain (M1) | Nuclear cataract | Chinese | Present study |
131T>A | V44E | First transmembrane domain (M1) | Cataract and microcornea | Indian | [28] |
134G>C | W45S | First transmembrane domain (M1) | Jellyfish-like cataract and microcornea | Indian | [29] |
139G>A | D47N | First extracellular loop (E1) | Nuclear pulverulent cataract | English | [30] |
139G>T | D47Y | First extracellular loop (E1) | Nuclear cataract | Chinese | [31] |
142G>A | E48K | First extracellular loop (E1) | Zonular nuclear pulverulent | Pakistani | [32] |
191T>G | V64G | First extracellular loop (E1) | Nuclear cataract | Chinese | [33] |
235G>C | V79L | Second transmembrane domain (M2) | Full moon like with Y-sutural opacities | Indian | [34] |
262C>T | P88S | Second transmembrane domain (M2) | Zonular pulverulent | English | [16] |
262C>A | P88Q | Second transmembrane domain (M2) | Lamellar pulverulent | English | [35] |
262C>A | P88Q | Second transmembrane domain (M2) | “Balloon-like”cataract with Y-sutural opacities | Indian | [36] |
565C>T | P189L | Second transmembrane domain (M2) | Nuclear cataract and microcornea | Danish | [37] |
593G>A | R198Q | Second transmembrane domain (M2) | Posterior subcapsular cataract and microcornea | Indian | [28] |
670insA | fs | Second transmembrane domain (M2) | Total cataract and nystagmus | Indian | [38] |
741T>G | I247M | COOH-terminus | Zonular pulverulent cataract | Russian | [39] |
ins776G | fs | COOH-terminus | Triangular nuclear cataract | German | [40] |
827C>T | S276F | COOH-terminus | Pulverulent nuclear cataract | Chinese | [41] |