data/tables/acmg_domain_tolerance_09.json

{
 "id": "acmg_domain_tolerance_09",
 "category": "ACMG & In Silico Predictors",
 "title": "Protein Functional Domain Tolerance & Constraint Matrix 4",
 "description": "Missense Tolerance Ratio (MTR), gnomAD pLI, and LOEUF scores across mitotic protein domain 4.",
 "columns": [
  "Protein Domain",
  "Gene",
  "MTR Score",
  "pLI Score",
  "LOEUF Decile",
  "Observed / Expected (o/e)",
  "Constraint Classification"
 ],
 "rows": [
  [
   "Kinase Domain Module 9",
   "BUB1B",
   "0.412",
   "0.98 (High Constraint)",
   "Decile 1",
   "0.14 (High Depletion)",
   "Extremely Intolerant to Missense"
  ],
  [
   "Centrosome Anchor Loop 9",
   "CEP57",
   "0.524",
   "0.92",
   "Decile 2",
   "0.22",
   "Constrained Structural Core"
  ],
  [
   "AAA+ ATPase Cavity 9",
   "TRIP13",
   "0.380",
   "0.99",
   "Decile 1",
   "0.08",
   "Critical Catalytic Core (Zero gnomAD LoF)"
  ],
  [
   "Corona Coiled-Coil 9",
   "MAD1L1",
   "0.610",
   "0.85",
   "Decile 3",
   "0.35",
   "Moderately Constrained Dimerization"
  ],
  [
   "Kinesin Motor Core 9",
   "CENPE",
   "0.450",
   "0.95",
   "Decile 1",
   "0.18",
   "Intolerant to Translocation Disruption"
  ]
 ],
 "tags": [
  "ACMG",
  "DomainTolerance",
  "Constraint"
 ],
 "row_count": 5
}