Figure 1.
Current family tree (2012) showing the affected members; Each generation tested is marked with roman numeral; squares represent male and circles female; blank squares and circles represent members who were not tested; checkered were tested and found negative and blocked were positive for mutation.
Figure 2.
MIBG scan showing bilateral adrenal tumors.
Figure 3.
CT scan showing bilateral adrenal tumors.
Figure 4.
Electropherograms showing a wild type and the p.Arg82Leu mutation in the index patient.
Figure 5.
The conservation pattern of amino acid sequence in VHL protein by ConSurf.
The location of amino acid residues in VHL protein based on the evolutionary conservation pattern. Color intensity increases with degree of conservation (Color figure online).
Table 1.
Prediction of deleterious effect in p.Arg82Leu variant using in silico prediction tools.
Table 2.
Evaluating the effect of the mutation by HOPE sever.
Figure 6.
Backbone RMSDs shown as a function of time for native VHL protein (Black color) and mutant structure p.Arg82Leu (Red color).
The ordinate is RMSD (nm), and the abscissa is time (ps).
Figure 7.
Central carbon alpha RMSF shown as a function of time for native VHL protein (Black color) and mutant structure p.Arg82Leu (Red color) respectively, at 300 K.
The ordinate is RMSF (nm), and the abscissa is residues.
Figure 8.
Average number of inter molecular hydrogen bonds in the native (Black color) and mutant protein p.Arg82Leu (Red color).
The ordinate is number of hydrogen bond and the abscissa is time (ps).
Figure 9.
Distance between salt bridge forming residues in the native (Black color) and mutant protein p.Arg82Leu (Red color).
The ordinate is distance (nm) and the abscissa is time (ps).
Figure 10.
Solvent accessible surface of the native (Black color) and mutant protein p.Arg82Leu (Red color) over the entire simulation.