Table 1 of Wang, Mol Vis 2010; 16:534-539.


Table 1. Previously reported mutations in MIP gene associated with cataracts

DNA
change
Protein
change
Mode of
inheritance
Location/
MIP domain

Phenotype description
Origin
of family

References
c. A401G E134G AD H4 TMα-helics Lamellar and sutural English [24]
c.C413G T138R AD H4 TMα-helics Polymorphic English [24]
A deleted G at nt.3223 Delete mutation at codon 213 AD H6 TMα-helics Radiating, vacuolar, or dense embryonal nuclear American [25]
c.G698A R233K AD COOH-terminus Posterior of the right, anterior polar in the left Chinese [27]
c.C97T R33C AD Loop A Total Chinese [26]
IVS3–1 G>A
AD COOH-terminus Snail-like Chinese [13]