Fig. 3: Statistics of variants mapped on 3D structures in the G2P portal. | Nature Methods

Fig. 3: Statistics of variants mapped on 3D structures in the G2P portal.

From: Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures

Fig. 3

Variants annotated on transcripts corresponding to the canonical protein isoforms were mapped on 3D structures. The total number of canonical protein isoform variants from each database is shown in the middle of the donut chart. a, The proportion of 9.4 million gnomAD variants mapped on PDB6, AlphaFoldDB25 or both. b, The proportion of 1.5 million ClinVar variants mapped on PDB, AlphaFold or both. c, The proportion of 280 thousand HGMD variants mapped on PDB, AlphaFold or both. d, The distribution of protein consequences (upper) and AF group (lower) among gnomAD variants mapped on AlphaFold (8.8 million variants) and PDB (2.2 million variants). e, The distribution of protein consequences (upper) and clinical significance (lower) among ClinVar variants mapped on AlphaFold (1.3 million variants) and PDB (542 thousand variants). f, The distribution of protein consequences (upper) and confidence (lower) among HGMD variants mapped on AlphaFold (244 thousand variants) and PDB (134 thousand variants).

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