Table 1 of Clout, Mol Vis 2003; 9:440-448.


Table 1. Missense mutations in βig-h3 that cause corneal dystrophies

The abbreviations used are: LCD is lattice corneal dystrophy, GCDGI is granular corneal dystrophy Groenouw type I, GCDII is granular corneal dystrophy type II, RBCD is Reis-Bücklers corneal dystrophy, and TBCD is Thiel-Behnke corneal dystrophy.

     Corneal         Mutation in                                Onset/patient   Lattice/             Predicted
    phenotype          βig-h3               Location             age (years)    granular   Amyloid   secretion
------------------   -----------   --------------------------   -------------   --------   -------   ---------
LCDI/IA                 R124C      sub-epithelial and stromal        <20           L          +          +
LCDIIIA                 N622K      Bowman's layer and stromal        <40           L          +          -
LCDIIIA/IIIB            N622H      stromal                           >40           L          +          ?
LCDIIIA/V               A546T      sub-Bowman's layer                >40           L          +          ?
LCDI/IIIA               G623D      sub-epithelial and stromal        >30           L          +          -
                        H626P      stromal                           >30           L          +          ?
                        T538R      sub-epithelial                    <20           L          +          -
                        L518R      sub-epithelial and stromal        >40           L          +          -
                        L518P      sub-epithelial and stromal        <20           L          +          ?
                        N544S                                                      L          +          ?
LCDI/IIIA/IIIB/VII      H626R      stromal                           >40           L          +          -
LCD-deep/IV             V631D      stromal-Descemet's membrane       >40           L          +          -
                        L527R      stromal-Descemet's membrane       >60           L          +          ?
GCDGI                   R555W      sub-epithelial and stromal        <20           G          -          +
                        R124S      stromal                           >50           G          -          +
GCDII                   R124H      stromal                           >50         L + G        +          +
RBCD                    R124L      Bowman's layer and stromal        <20           G          -          +
TBCD                    R555Q      Bowman's layer                    <20           G          -          +

Clout, Mol Vis 2003; 9:440-448 <http://www.molvis.org/molvis/v9/a56/>
©2003 Molecular Vision <http://www.molvis.org/molvis/>
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