Uploaded August 2025 | Updated September 2026, 2 weeks ago
Genomics2Proteins Portal
11. 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.
Link to all tutorials: broad.io/g2p-portal-tutorials
Link to G2P portal: g2p.broadinstitute.org
Feedback: https://forms.gle/vjyyB8CUg5rguN466
Contact: sumaiya@broadinstitute.org
For more information, visit: broadinstitute.org
Copyright Broad Institute, 2025. All rights reserved.
Genomics2Proteins Portal
11. 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.
Link to all tutorials: broad.io/g2p-portal-tutorials
Link to G2P portal: g2p.broadinstitute.org
Feedback: https://forms.gle/vjyyB8CUg5rguN466
Contact: sumaiya@broadinstitute.org
For more information, visit: broadinstitute.org
Copyright Broad Institute, 2025. All rights reserved.
