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"id": "acmg_domain_tolerance_06",
"category": "ACMG & In Silico Predictors",
"title": "Protein Functional Domain Tolerance & Constraint Matrix 1",
"description": "Missense Tolerance Ratio (MTR), gnomAD pLI, and LOEUF scores across mitotic protein domain 1.",
"columns": [
"Protein Domain",
"Gene",
"MTR Score",
"pLI Score",
"LOEUF Decile",
"Observed / Expected (o/e)",
"Constraint Classification"
],
"rows": [
[
"Kinase Domain Module 6",
"BUB1B",
"0.412",
"0.98 (High Constraint)",
"Decile 1",
"0.14 (High Depletion)",
"Extremely Intolerant to Missense"
],
[
"Centrosome Anchor Loop 6",
"CEP57",
"0.524",
"0.92",
"Decile 2",
"0.22",
"Constrained Structural Core"
],
[
"AAA+ ATPase Cavity 6",
"TRIP13",
"0.380",
"0.99",
"Decile 1",
"0.08",
"Critical Catalytic Core (Zero gnomAD LoF)"
],
[
"Corona Coiled-Coil 6",
"MAD1L1",
"0.610",
"0.85",
"Decile 3",
"0.35",
"Moderately Constrained Dimerization"
],
[
"Kinesin Motor Core 6",
"CENPE",
"0.450",
"0.95",
"Decile 1",
"0.18",
"Intolerant to Translocation Disruption"
]
],
"tags": [
"ACMG",
"DomainTolerance",
"Constraint"
],
"row_count": 5
} |