Article

Protein Composition, Not Mutation Identity, Determines Disease Manifestation

2026-03-20

Abstract excerpt

Current variant interpretation predicts pathogenicity but cannot predict which organ system will be affected. We show that three numbers -- the fractional composition of flexible (G,A,S,P,T), catalytic (D,E,R,K,H,C,N,Q), and structural (L,I,V,F,Y,W,M) amino acids in a protein -- predict disease category with 91.2% accuracy across 13 organ systems and 68,573 ClinVar pathogenic variants, a task no existing tool addr...

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Identifiers and source

Literature Corpus work: 00ef1618-9862-5c83-86d3-bd8f96934503
DOI: 10.20944/preprints202603.1629.v1

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