Table 2 of Wang, Mol Vis 2011; 17:70-77.
Table 2. Summary of identified mutations in MIP responsible for congenital cataract.
Mutation |
Amino acid change |
Location |
Cataract type |
Origin of family |
Reference |
---|---|---|---|---|---|
c.97C>T | p.R33C | Loop A | Total cataract | Chinese | [9] |
c.319G>A | p.V107I | Loop C | Nuclear | Chinese | [24] |
c.401A>G | p.E134G | H4 | Lamellar and sutural | English | [25] |
c.413C>G | p.T138R | H4 | Polymorphic | English | [25] |
c.559C>T | p.R187C | HE | Nuclear | Chinese | Present study |
IVS-1G>A | H6 | Nuclear “snail-like” | Chinese | [26] | |
C.638delG | p.D213fs | H6 | Polymorphic | American | [27] |
c.702G>A | p.R233K | COOH-terminus | Polymorphic | Chinese | [20] |