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Fig. 3 | Genome Biology

Fig. 3

From: A comprehensive map of human glucokinase variant activity

Fig. 3

Correlations with enzyme kinetics, fasting blood glucose levels, and clinical genetics. A Plot showing the correlation between the GCK activity scores and previously measured catalytic efficiency (kcat/S0.5) [47] of 38 variants with a Spearmans’ ρ of 0.76. The red dotted line indicates WT catalytic efficiency [47] and the black dotted line shows the best fitting curve. B The activity score plotted against the fasting glucose level of 33 carriers with an identified single variant in the GCK gene. The black dotted line indicates the best fitting curve. Spearmans’ ρ is -0.58. C Raincloud plot showing the distributions of activity scores for 60 functionally characterized glucokinase-maturity-onset diabetes of the young (GCK-MODY) variants [24], eight functionally characterized hyperinsulinemic hypoglycemia (HH) variants [24] and three benign variants [38, 48, 49]. Due to the limited number of benign variants, the imputed activity score of the benign variant p.G68D was used, as no experimental score was obtained for this variant. The black dotted lines show the thresholds for variants associated with GCK-MODY (0.66, AUC = 0.88) and HH (1.18, AUC = 0.94) based on receiver-operating characteristic (ROC) analyses. D Plot showing the activity scores and the associated gnomAD allele frequency [36] for GCK variants present in gnomAD. As in panel C, the imputed activity score of p.G68D was used. In addition, the pathogenic variants from panel C that were not present in gnomAD are plotted to the left of the stippled line

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