Variant Landscape and the 11,142-cell PRESR heatmap
Apr 14, 2026

Variant Landscape and the 11,142-cell PRESR heatmap

UniProt-style variant landscape ships for STXBP1. PRESR heatmap toggle shows predicted pathogenicity for every possible missense substitution — 11,142 cells for STXBP1.

April 12, 2026

Protein Variant Landscape

A UniProt-style scatter plot of every observed variant for the current gene, plotted on a position × amino-acid-substitution grid. Horizontal axis is protein position, vertical axis is the substituted amino acid (21 rows: 20 residues plus stop). Colored domain bands run across the background. Each observed variant is a dot color-coded by pathogenicity class.

PRESR heatmap toggle (STXBP1-only)

Fills the background with per-cell pathogenicity predictions for every possible missense substitution — for STXBP1 that is 11,142 cells — shaded red (predicted pathogenic), amber (uncertain), or green (predicted neutral).

Split-pane Research Mode

Research Mode gained a proper draggable split-pane layout replacing the fixed-height block. Variant list left, 3D viewer center, analysis panel right. Resize between 15 and 85 percent to match your monitor and your task.

MAVS review on five variants

Claude Opus 4.6, GPT-5.4 Thinking, Gemini 3.1 Pro, and Grok 4.2 each reviewed and contributed corrections to analyses of K196X, G544D, E53X, A297S, and V48F. NMD mechanism for nonsense variants clarified. Trial evidence discipline tightened. Ravicti relabeled as investigational.

Explain Mode

Click any residue in the 3D viewer for a two-tab card. Simple tab for parent-friendly context. Deep tab for PhD-level detail. Gene-specific glossary attached per gene.