Identification
Figure 1: Identification of g.G2,096A (p.S179N) mutation in the MEFV gene. Electropherogram shows a ‘G’ to ‘A’ nucleotide change in homozygous state in the RHD patient (a, b). This nucleotide change replaces Serine at position 179 to Asparagine and is positioned between PYRIN and BBox domain marked with red line (c). The predication of 3-D structure of wild-type and mutated protein have shown marked differences especially in the positioning of the domains (d, e). The colors of different domains are in accordance with the color as marked in the linear structure. Wildtype MEFV model C-score (0.97), Exp.TM-Score (0.59 ± 0.14), Exp. RMSD (10.6 ± 4.6); S179N mutant MEFV model C-score (1.02), Exp.TM-Score (0.59 ± 0.14), Exp. RMSD (10.8 ± 4.6).