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]

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

Wang, Mol Vis 2011; 17:70-77. http://www.molvis.org/molvis/v17/a10

©2011 Molecular Vision http://www.molvis.org/molvis/

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