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