Variant interpretation

Compare a wild-type and mutant protein for SNV, indel and frameshift effects.

Examples & method

Optional worked examples and the underlying biological question. Choose Try this example to load and run one.

Step 1Workflow
Step 2Input source
Step 3Analysis mode
Step 2Browse type
Step 4Sequence and mutation input
Pick a row — free text is not accepted.
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…

    Variant at a glance

    Run an interpretation to see analysis context.

    Clinical evidence at this variant

    Run an interpretation to populate the summary.

    Detailed sequence difference

    No comparison loaded.
    Changed segment(s)
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    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…
    Tracks & settings
    Visual — WT Aligned diff band · WT disorder (DisCanVis)
    Visual — Mutant Aligned diff band · no mutant disorder unless length matches WT vector