Variant interpretation

Unified workflow for SNV, insertion/deletion, and frameshift effects: summary-like visual tracks, alignment-aware loss/gain regions, predicted motif changes, and structural/clinical context cards.

Input can come from protein lookup or pasted sequences. Use the builder tools to create mutations, then inspect the same context sections you use on Mutation Browse.

Workflow guide

Pick a topic, read the biological question and steps, then Try this example to load the form and run interpretation.

Search mutations & samples Variant interpretation (WT vs mutant, sequence deltas)
Unified interpretation + browse-style context cards
Step 1
Step 2
Step 3
Step 2
Step 4
Sequence and mutation input
Main isoform autocomplete. Ambiguous text (e.g. «P53») is rejected until you select a row.
Mutation builder (click residue)
No residue selected.
Frameshift builder (WT -> Mutant)
Use WT sequence above, then generate mutant edits.
Generated sequence is written into the Mutant sequence field.
Browse matches
Type Disease / cancer DB Clinical sig. Gene Gencode ID Mut Pos Order/Disorder ID Analyse
Loading pipeline…

    Overview

    Run an interpretation to see analysis context.

    Summary

    Run an interpretation to populate the summary.

    Comparison

    No comparison loaded.
    Changed segment(s)
    —
    ELM regex — predictions per sequence

    Catalog regex hits per sequence — disorder-filtered when a combined-disorder vector is available (same ≥60% rule as the plot).

    ELM — gain / loss (WT vs MT)
    De novo vs lost — disorder-filtered when combined vector exists
    Load WT + mutant to compare…

    Visual

    Tracks aligned with the label column

    Track controls
    Track settings

    Sequence always visible; unchecked tracks are omitted from the plot.

    Visual — WT Aligned diff band · WT disorder (DisCanVis)
    Visual — Mutant Aligned diff band · no mutant disorder unless length matches WT vector