Table 1.
Top 20 most pathogenic novel discoveries.
| gene | mutant | score | PDB ID | Close to |
|---|---|---|---|---|
|
| ||||
| ETF1 | R192C, R68L | −7.2,−6.8 | 6d90 | both close to RNA phosphate, 3.5 Å |
| WDR5 | S62N | −6.8 | 2co0 | - |
| UBE2D3 | S105Y | −6.7 | 4ap4 | close to bound ubiquitin, 3.2 Å |
| EIF4A2 | Q60K | −6.6 | 3ews | close to ATP, 2.3Å |
| ANP32A | L80R | −6.4 | 2je0 | - |
| UBE2H | D120V | −6.2 | 2z5d, 2gmi* | close to bound ubiquitin, 4Å, D120 a “gateway residue” |
| XPO1 | T448K | −6.2 | 3nc1 | close to bound Ran-GTP-binding protein, 3.6Å |
| COPS2 | F69C | −6.1 | 6a73 | close to cellular metabolite inositol hexakisphosphate, 4Å |
| RBBP7 | N325D | −6.0 | 8i03* | - |
| DDX17 | V484M | −5.9 | 6uv1 | close to ATP, 5Å |
| SPIN1 | Y170C | −5.9 | 4mxg | close to bound histone tail, 3Å |
| WARS1 | G163V | −5.9 | 1r6t | close to ligand, Trp-AMP, 2.8Å |
| MAT2A | S206F | −5.9 | 4ktt | close to ligand, SAM, 4Å |
| KCNN2 | I637F | −5.8 | 6cnn | 2A from K+ in ion channel |
| ZMYND8 | R333G | −5.8 | 5y1z | close to interface with actin binding protein Drebrin, ~5Å |
| ACTC1 | S340F | −5.8 | 8gsw | close to bound fragmin, 3Å |
| PSMA2 | G125D | −5.8 | 4r3o | close to proteosome PSMA6, 1.5Å |
| MAP2K4 | S262N | −5.8 | 3aln | close to ANP ligand, 4.8Å |
| ZBED4 | C136R | −5.8 | 3mjh* | binds zinc in zinc finger by homology |
| NFKB2 | W270R | −5.8 | 1a3q | - |
| CALM1 | D24Y | −5.8 | 6cnn | zinc binding site |