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] |
Shown are MIP mutations that have been identified in this and other studies.