Investigate protein-level effect of a non-canonical transcript variant KIF2A:p.Gly478Arg (VUS)

This video illustrates a tutorial for how to use the Genomics 2 Proteins portal to analyze the protein-level effect of a non-canonical transcript variant, by mapping it onto the canonical protein's sequence and structure. The target variant is reported as a variant of uncertain significance (VUS). However, the protein-level analysis demonstrates that the resulting mutation is located on the functional domain of the protein, and on the protein-protein interface, with a possible impact on protein-protein interaction (hydrogen bond) as identified from the experimentally solved structure (6BBN). Furthermore, the structural features of the reference amino acid indicate the likely structure-level impact of the mutation.

Related