Fig. 6

Result of detailed SNP analysis of POLR2A N764K. a Domain architecture of POLR2A. b Multiple alignment of POLR2A. Orthologs of POLR2A were retrieved using Orthologue search on ANNOTATOR [25]. MAFFT with L-INS-i was used to create the multiple alignment. c Homology model of POLR2A was created by MODELLER with loop refinement using a crystal structure of yeast RNA polymerase II (PDB:1I3Q chain A) as a template. This template was retrieved using BLAST against PDB on ANNOTATOR [e-value = 0.0]. d Screen shot of the FoldX result showing wild type and after mutation. The SNP was predicted to destabilize protein structure (average ddG run over 5 times = 1.13 kcal/mol, SD = 0.09)