Fig. 2
From: A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
Genotype and modeled structures of PhK gamma catalytic chain protein. A WGS discovered the compound heterozygous mutations in patient. The electropherogram depicts missense mutation c.698T>C (F233S) and insertion c.957insGG (R320DfsX5). B RT-PCR show PHKG2 mRNA levels of WT and mutations. C Western blots show PhK gamma catalytic chain protein expression of vector, WT and mutations. The molecular mass of the protein fused to EGFP is approximately 72KDa. D PhK enzyme activity of WT, polymorphism and mutations. E Superimposed structure of native amino acid phenylalanine (orange) and mutant amino acid serine (yellow) at position 233 in PhK gamma catalytic chain protein (2.5Å, PBD code: 2Y7J)