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