Fig. 2

Detection of VHL c.193T > C mutation in the family. A DNA sequence traces of a representative wild-type allele, a representative heterozygous c.193T > C mutation from the family 1 and c.194C > G mutation from the family2. B The mutations were predicted to alter Ser to Pro or Trp at residue 65. C Alignment of pVHL sequence from various species indicated the Ser65 residue is highly conserved in VHL proteins across different species. D Representative immunostaining results of expression of pVHL, HIF-1α, HIF-2α, Vimentin and E-cadherin in the para-tumor renal tissue (Normal), renal cell carcinoma (RCC, well-differentiated and poorly-differentiated), and hemangioblastoma (CNSH), respectively