Table 3 of Wang, Mol Vis 2009; 15:2813-2820.


Table 3. Summary of identified mutations in GJA8.



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]